AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceHealth Care
Aortic Stenosis, SupravalvularAortic Valve StenosisWilliams SyndromeElastinPulmonary Valve StenosisAortic ValveDiscrete Subaortic StenosisAutograftsHeart Valve Prosthesis ImplantationAortic Stenosis, SubvalvularPericardiumCarotid StenosisHeart Valve ProsthesisSyndromeCardiac CatheterizationCoronary StenosisSpinal StenosisTracheal StenosisMitral Valve StenosisEchocardiography, DopplerAortic Valve InsufficiencyEchocardiographyCalcinosisCatheterizationConstriction, PathologicPyloric StenosisSeverity of Illness IndexBlood VesselsSyphilis, CardiovascularTropoelastinEncyclopedias as TopicExonsMolecular Sequence DataAmino Acid SequenceProtein ConformationPubMedPeriodicals as TopicBooksPublishingMEDLINESerial PublicationsBiological Science DisciplinesSurgical Fixation DevicesGelatin Sponge, AbsorbableCardiopulmonary BypassSuturesHemostasis, SurgicalSuture TechniquesHemostaticsAngina, UnstableSick Building SyndromeAcute Coronary SyndromeMyocardial InfarctionAngina PectorisAngioplasty, Balloon, CoronaryElectrocardiography
Aortic Stenosis, Supravalvular
A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Aortic Valve Stenosis
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Williams Syndrome
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Elastin
Pulmonary Valve Stenosis
The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Aortic Valve
The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.
Discrete Subaortic Stenosis
A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Autografts
Transplant comprised of an individual's own tissue, transferred from one part of the body to another.
Heart Valve Prosthesis Implantation
Surgical insertion of synthetic material to repair injured or diseased heart valves.
Aortic Stenosis, Subvalvular
A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Pericardium
A conical fibro-serous sac surrounding the HEART and the roots of the great vessels (AORTA; VENAE CAVAE; PULMONARY ARTERY). Pericardium consists of two sacs: the outer fibrous pericardium and the inner serous pericardium. The latter consists of an outer parietal layer facing the fibrous pericardium, and an inner visceral layer (epicardium) resting next to the heart, and a pericardial cavity between these two layers.
Carotid Stenosis
Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)
Heart Valve Prosthesis
A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.
Syndrome
A characteristic symptom complex.
Cardiac Catheterization
Procedures in which placement of CARDIAC CATHETERS is performed for therapeutic or diagnostic procedures.
Coronary Stenosis
Narrowing or constriction of a coronary artery.
Spinal Stenosis
Narrowing of the spinal canal.
Tracheal Stenosis
Mitral Valve Stenosis
Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause.
Echocardiography, Doppler
Measurement of intracardiac blood flow using an M-mode and/or two-dimensional (2-D) echocardiogram while simultaneously recording the spectrum of the audible Doppler signal (e.g., velocity, direction, amplitude, intensity, timing) reflected from the moving column of red blood cells.
Aortic Valve Insufficiency
Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).
Echocardiography
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
Calcinosis
Pathologic deposition of calcium salts in tissues.
Catheterization
Use or insertion of a tubular device into a duct, blood vessel, hollow organ, or body cavity for injecting or withdrawing fluids for diagnostic or therapeutic purposes. It differs from INTUBATION in that the tube here is used to restore or maintain patency in obstructions.
Constriction, Pathologic
The condition of an anatomical structure's being constricted beyond normal dimensions.
Pyloric Stenosis
Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants.
Severity of Illness Index
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Blood Vessels
Any of the tubular vessels conveying the blood (arteries, arterioles, capillaries, venules, and veins).
Syphilis, Cardiovascular
Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM.
Tropoelastin
A salt-soluble precursor of elastin. Lysyl oxidase is instrumental in converting it to elastin in connective tissue.
Encyclopedias as Topic
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Exons
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Amino Acid Sequence
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Protein Conformation
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
PubMed
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
Periodicals as Topic
A publication issued at stated, more or less regular, intervals.
Books
Publishing
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.
MEDLINE
The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).
Serial Publications
Publications in any medium issued in successive parts bearing numerical or chronological designations and intended to be continued indefinitely. (ALA Glossary of Library and Information Science, 1983, p203)
Biological Science Disciplines
All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.
Surgical Fixation Devices
Devices used to hold tissue structures together for repair, reconstruction or to close wounds. They may consist of adsorbable or non-adsorbable, natural or synthetic materials. They include tissue adhesives, skin tape, sutures, buttons, staples, clips, screws, etc., each designed to conform to various tissue geometries.
Gelatin Sponge, Absorbable
Sterile, gelatin-base surgical sponge applied topically as an adjunct to hemostasis when the control of bleeding by conventional procedures is ineffective to reduce capillary ooze or is impractical. (From AMA Drug Evaluations Annual, 1994, p797)
Cardiopulmonary Bypass
Diversion of the flow of blood from the entrance of the right atrium directly to the aorta (or femoral artery) via an oxygenator thus bypassing both the heart and lungs.
Sutures
Materials used in closing a surgical or traumatic wound. (From Dorland, 28th ed)
Hemostasis, Surgical
Control of bleeding during or after surgery.
Suture Techniques
Techniques for securing together the edges of a wound, with loops of thread or similar materials (SUTURES).
Hemostatics
Agents acting to arrest the flow of blood. Absorbable hemostatics arrest bleeding either by the formation of an artificial clot or by providing a mechanical matrix that facilitates clotting when applied directly to the bleeding surface. These agents function more at the capillary level and are not effective at stemming arterial or venous bleeding under any significant intravascular pressure.
Angina, Unstable
Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION.
Sick Building Syndrome
A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)
Acute Coronary Syndrome
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
Myocardial Infarction
NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).
Angina Pectoris
The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.
Angioplasty, Balloon, Coronary
Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply.
Electrocardiography
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.

Elastic and collagenous networks in vascular diseases. (1/33)

Supravalvular aortic stenosis (SVAS), Marfan syndrome (MFS) and Ehlers-Danlos syndrome type IV (EDS IV) are three clinical entities characterized by vascular abnormalities that result from mutations of structural components of the extracellular matrix (ECM). Analyses of naturally occurring human mutations and of artificially generated deficiencies in the mouse have provided insights into the pathogenesis of these heritable disorders of the connective tissue. SVAS is associated with haploinsufficiency of elastin, one of the two major components of the elastic fibers. SVAS is characterized by narrowing of the arterial lumen due to the failure of regulation of cellular proliferation and matrix deposition. Mutations in fibrillin 1 are the cause of dissecting aneurysm leading to rupture of the ascending aorta. Fibrillin-1 is the building block of the microfibrils that span the entire thickness of the aortic wall and are a major component of the elastic fibers that reside in the medial layer. The vascular hallmark of EDS IV is rupture of large vessels. The phenotype is caused by mutations in type III collagen. The mutations ultimately affect the overall architecture of the collagenous network and the biomechanical properties of the adventitial layer of the vessel wall. Altogether, these genotype-phenotype correlations document the diversified contributions of distinct extracellular macroaggregates to the assembly and function of the vascular matrix.  (+info)

Hypoplastic left heart syndrome. (2/33)

Hypoplastic left heart syndrome may be accurately diagnosed during fetal life. Prenatal diagnosis provides the opportunity for parents to make an informed choice about their options, including surgery, nonintervention postnatally or termination of pregnancy. Short to medium term survival continues to improve for a condition that was previously invariably lethal. There continues to be a significant mortality and morbidity associated with hypoplastic left heart syndrome, and the long-term prognosis is unknown. Knowledge of the condition prior to birth means that babies who are to undergo surgery present in optimal condition for such interventions. Parents who have had an affected fetus or child should be offered detailed fetal echocardiography to exclude a recurrence in subsequent pregnancies.  (+info)

Elastin: mutational spectrum in supravalvular aortic stenosis. (3/33)

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams syndrome. SVAS is caused by translocations, gross deletions and point mutations that disrupt the elastin gene (ELN) on 7q11.23. Functional hemizygosity for elastin is known to be the cause of SVAS in patients with gross chromosomal abnormalities involving ELN. However, the pathogenic mechanisms of point mutations are less clear. One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. Mutations associated with the vascular disease were detected in 35 patients, and included nonsense, frameshift, translation initiation and splice site mutations. The four missense mutations identified are the first of this type to be associated with SVAS. Here we describe the spectrum of mutations occurring in familial and sporadic SVAS and attempt to define the mutational mechanisms involved in SVAS. SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments.  (+info)

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. (4/33)

To elucidate the pathomechanism leading to obstructive vascular disease in patients with elastin deficiency, we compared both elastogenesis and proliferation rate of cultured aortic smooth-muscle cells (SMCs) and skin fibroblasts from five healthy control subjects, four patients with isolated supravalvular aortic stenosis (SVAS), and five patients with Williams-Beuren syndrome (WBS). Mutations were determined in each patient with SVAS and in each patient with WBS. Three mutations found in patients with SVAS were shown to result in null alleles. RNA blot hybridization, immunostaining, and metabolic labeling experiments demonstrated that SVAS cells and WBS cells have reduced elastin mRNA levels and that they consequently deposit low amounts of insoluble elastin. Although SVAS cells laid down approximately 50% of the elastin made by normal cells, WBS cells deposited only 15% of the elastin made by normal cells. The observed difference in elastin-gene expression was not caused by a difference in the stability of elastin mRNA in SVAS cells compared with WBS cells, but it did indicate that gene-interaction effects may contribute to the complex phenotype observed in patients with WBS. Abnormally low levels of elastin deposition in SVAS cells and in WBS cells were found to coincide with an increase in proliferation rate, which could be reversed by addition of exogenous insoluble elastin. We conclude that insoluble elastin is an important regulator of cellular proliferation. Thus, the reduced net deposition of insoluble elastin in arterial walls of patients with either SVAS or WBS leads to the increased proliferation of arterial SMCs. This results in the formation of multilayer thickening of the tunica media of large arteries and, consequently, in the development of hyperplastic intimal lesions leading to segmental arterial occlusion.  (+info)

Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine. (5/33)

Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed that he had a localized type of SVAS and regression of the PPS. Chest X-ray showed that he did not have the normal thoracic curvature. His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. Cardiac magnetic resonance imaging showed a localized type of SVAS in his mother also, though not in his sister, both of whom had a somewhat straight thoracic spine, most noticeably in the mother, though not to the degree observed in the patient. This case appears to be familial, though it is not clear whether this skeletal abnormality is an unknown phenotypic feature of this cardiovascular disease.  (+info)

Williams syndrome associated with complete atrioventricular septal defect. (6/33)

Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.  (+info)

Follow-up study of morphology and cardiac function in rats undergoing induction of supravalvular aortic stenosis. (7/33)

OBJECTIVE: To characterize the follow-up of an experimental model of left ventricular hypertrophy (LVH) induced by supravalvular ascending aortic stenosis in young rats. METHODS: Wistar rats were submitted to thoracotomy and aortic stenosis was created by placing a clip on the ascending aorta (AoS group, n=12). Age-matched control animals underwent a sham operation (C group, n=12). Cardiac function was analysed by echocardiograms performed 6, 12, and 21 weeks after aortic banding. Myocardial morphological features and myocardial hydroxyproline concentration (HOP) were evaluated 2, 6, 12, and 21 weeks after surgery in additional animals. RESULTS: Aortic banding promoted early concentric LVH and a progressive increase in HOP. Under light microscopy, we observed myocyte hypertrophy and wall thickening of the intramural branches of the coronary arteries due to medial hypertrophy. Cardiac function was supranormal after 6 weeks (percentage of fractional shortening - EAo6: 70.3 +/- 10.8; C6: 61.3 +/- 5.4; p<0.05), and depressed in the last period. Diastolic dysfunction was detected after 12 weeks (ratio of early-to-late filling velocity - EAo12: 4.20 +/- 3.25; C12: 1.61 +/- 0.16; p<0.05). CONCLUSION: Ascending aortic stenosis promotes concentric LVH with myocardial fibrosis and minimal histological changes. According to the period of evaluation, cardiac function may be improved, normal, or depressed. The model is suitable and useful for studies on pathophysiology and treatment of the different phases of cardiac hypertrophy.  (+info)

Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (8/33)

OBJECTIVE: To estimate the incidence and document the clinical characteristics of Williams-Beuren syndrome in the Hong Kong Chinese population. DESIGN: Cytogenetic analysis and retrospective study. SETTING: Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS: Forty-one Chinese patients with Williams-Beuren syndrome. MAIN OUTCOME MEASURES: From 1 January 1995 to 30 June 2002, fluorescence in situ hybridisation was used to confirm diagnoses in 41 cases of Williams-Beuren syndrome by detecting chromosome 7q microdeletion. Case records were reviewed, the incidence of the condition in the local population was estimated, and the main clinical characteristics were determined. RESULTS: The minimal incidence of Williams-Beuren syndrome in this locality was estimated to be approximately 1 per 23500 live births. Common dysmorphic facial features included periorbital fullness (83%), full lips (80%), a long philtrum (51%), a flat nasal bridge (41%), and abnormal teeth (37%). No patients had a stellate iris. The majority (82%) had at least one documented cardiac anomaly; among these patients, peripheral pulmonary stenosis was diagnosed in 61% and supravalvular aortic stenosis in 45%. Nearly all (93%) of the study group exhibited developmental delay. CONCLUSION: As in the West, patients with Williams-Beuren syndrome in the Hong Kong Chinese population display craniofacial dysmorphism, cardiovascular anomalies, and mental deficiency. Supravalvular aortic stenosis-the cardiac defect most commonly associated with Williams-Beuren syndrome in western countries-is less common than peripheral pulmonary stenosis in this region. Studies involving periodic cardiovascular evaluation are needed to confirm if this difference is significant.  (+info)

Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic...Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic...
The lesions of the aortic root, which are supravalvular aortic stenosis and coronary ostial stenosis, in familial hypercholesterolemia were studied using two-dimensional echocardiography. The subjects were 25 heterozygotes, six homozygotes and 30 control subjects. The internal diameters of the aortic ring, the sinus of Valsalva and the supravalvular aortic ring were measured. Measurement variation due to body size was avoided by normalizing the latter two values by the diameter of the aortic ring. Four heterozygotes and all homozygotes were judged to have stenosis of the supravalvular aortic ring; none of heterozygotes and four homozygotes had stenosis of the sinus of Valsalva. In three of the four patients with stenosis of both the supravalvular aortic ring and the sinus of Valsalva, a pressure gradient was demonstrated. The degree of supravalvular aortic stenosis correlated with the serum cholesterol level but not with patient age. All homozygotes, even very young ones, had a severe aortic ...
http://circ.ahajournals.org/content/67/4/878
Supravalvular Aortic Stenosis | St. Louis Childrens HospitalSupravalvular Aortic Stenosis | St. Louis Childrens Hospital
Supravalvular aortic stenosis (SVAS) is an uncommon vascular defect causing blood flow obstruction that usually develops in the first few years of life.. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta), especially at major branch points.. The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve).. Isolated SVAS is caused by genetic changes in the elastin gene (ELN) that can be passed from parent to child. Elastin defects are associated with connective tissue abnormalities, such joint problems, hernias, and cardiovascular disease. In children with Williams syndrome, the elastin gene is deleted along with 25-27 other genes that cause developmental delays and hormone problems. The elastin gene provides instructions for making a protein called tropoelastin. Elastin is the major component of ...
http://www.stlouischildrens.org/diseases-conditions/supravalvular-aortic-stenosis
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis<...A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis<...
TY - JOUR. T1 - A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. AU - Olson, Timothy Mark. AU - Michels, V. V.. AU - Urban, Z.. AU - Csiszar, K.. AU - Christiano, A. M.. AU - Driscoll, D. J.. AU - Feldt, R. H.. AU - Boyd, C. D.. AU - Thibodeau, Stephen N. PY - 1995. Y1 - 1995. UR - http://www.scopus.com/inward/record.url?scp=0029145430&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029145430&partnerID=8YFLogxK. M3 - Article. C2 - 8541862. AN - SCOPUS:0029145430. VL - 4. SP - 1677. EP - 1679. JO - Human Molecular Genetics. JF - Human Molecular Genetics. SN - 0964-6906. IS - 9. ER - ...
https://mayoclinic.pure.elsevier.com/en/publications/a-30-kb-deletion-within-the-elastin-gene-results-in-familial-supr
Surgical result of supravalvular aortic stenosis (authors transl)]. - Semantic ScholarSurgical result of supravalvular aortic stenosis (authors transl)]. - Semantic Scholar
Semantic Scholar extracted view of [Surgical result of supravalvular aortic stenosis (authors transl)]. by Junichi Araki et al.
https://www.semanticscholar.org/paper/Surgical-result-of-supravalvular-aortic-stenosis-Araki-Abe/2ca6e0916c95de006fc364799d7e069a861991f3
Difference between revisions of 2011 Group Project 9 - EmbryologyDifference between revisions of 2011 Group Project 9 - Embryology
William-Beuren Syndrome is named after John C.P. Williams, a cardiologist from New Zealand, and Alois J Beuren, a German physician and cardiac researcher. Initial investigation into Williams-Beuren Syndrome came from two apparently different disorders, idiopathic infantry hypercalcemia and Supravalvular Aortic Stenosis (SVAS). With further research, these abnormalities were identified as being aspects of this same syndrome. [5] The first cases related to Williams Syndrome were in relation to Infantile Hypercalcemia. In 1957 Stapleton and colleagues studied the effects of hypercalcemia in a number of infants and noted several consistencies between them including abnormal facial features, failure to thrive, developmental delay, and systolic murmurs of the heart, all of which have now been associated with Williams Syndrome. [6] [1] J.C.P Williams was one of the first to recognise some of the clinical factors associated with this syndrome. In a study conducted in 1961 of Supravalvular Aortic ...
https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_9&diff=68659&oldid=68655
retinal vessel tortuosity | Hereditary Ocular Diseasesretinal vessel tortuosity | Hereditary Ocular Diseases
The phenotype is variable, likely depending upon the size of the deletion. Cardiovascular disease, primarily hypertension and large vessel stenosis, are among the most important features. The elastin arteriopathy lead to thickened arterial walls with peripheral pulmonary stenosis and supravalvular aortic stenosis. The facies is considered unique with bitemporal narrowing, a wide mouth, full lips, malocclusion, small jaw, and prominent earlobes. The teeth are small and widely spaced. Connective tissue abnormalities include joint hyperextensibility, hernias, lax skin, hypotonia, and bowel/bladder diverticulae. Small birth size is common and infants often fail to thrive but at puberty patients can experience a growth spurt. Ultimate height in adults is usually in the third centile.. Vocal cord anomalies and paralysis can result in a hoarse voice. A sensorineural hearing loss is common among adults but hyperacusis is often present in young children.. Hypercalcemia and hypercalciuria are common and ...
https://disorders.eyes.arizona.edu/category/clinical-features/retinal-vessel-tortuosity
Williams Syndrome - AAPOSWilliams Syndrome - AAPOS
A cardiovascular problem called Supravalvular Aortic Stenosis (SVAS) can be associated with Williams Syndrome. SVAS is the narrowing of the large blood vessel which carries blood from the heart to the rest of the body. This problem could cause shortness of breath, chest pain and ultimately heart failure if not treated. Decreased birth weight and failure to gain weight normally is also common. There can also be digestive and urinary tract difficulties.. ...
https://aapos.org/terms/conditions/109
Difference between revisions of 2011 Group Project 9 - EmbryologyDifference between revisions of 2011 Group Project 9 - Embryology
William-Beuren Syndrome is named after John C.P. Williams, a cardiologist from New Zealand, and Alois J Beuren, a German physician and cardiac researcher. Initial investigation into Williams-Beuren Syndrome came from two apparently different disorders, idiopathic infantile hypercalcemia and Supravalvular Aortic Stenosis (SVAS) . With further research, these abnormalities were identified as being aspects of this same syndrome. [7] The first cases related to Williams Syndrome involved Idiopathic Infantile Hypercalcemia. From as early as 1952, research into infantile hypercalcemia, by Falconi et.al, found that children with this disorder had common clinical characteristics such as a short stature and a variety of congenital malformations. [8] In the years that followed many other studies were conducted in this area revealing additional correlations. For example in 1957 Stapleton and colleagues studied the effects of hypercalcemia in a number of infants and noted several consistencies between them ...
https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_9&diff=77485&oldid=77482
Patient Stories | UCSF Cardiac SurgeryPatient Stories | UCSF Cardiac Surgery
My name is Marla Levy and I owe my life to Dr. Scot Merrick, Chief of Adult Cardiothoracic Surgery at UCSF. My story begins in Southern California when I was 21 and diagnosed with a congenital heart defect: supravalvular aortic stenosis or SVAS. SVAS develops before birth and causes narrowing of the aorta, the large blood vessel that carries blood from the heart to the rest of the body. At age 27, I had my first open heart surgery. My aorta was replaced with a human valve, and when doctors couldnt get my heart to start after the procedure, I received an emergency right coronary bypass.[...] ...
https://cardiacsurgery.ucsf.edu/patient-center/patient-experiences/patient-stories.aspx?cat=Extracorporeal%20Membrane%20Oxygenation%20
Williams Syndrome | Profiles RNSWilliams Syndrome | Profiles RNS
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy ...
https://researchers.childrensmercy.org/display/20375
Yibing QyangYibing Qyang
Ge X, Ren Y, Bartulos O, Lee MY, Yue Z, Kim KY, Li W, Amos PJ, Bozkulak EC, Iyer A, Zheng W, Zhao H, Martin KA, Kotton DN, Tellides G, Park IH, Yue L, Qyang Y: Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. Circulation. 2012 Oct 2; 2012 Aug 22. PMID: 22914687 Kim JD, Kang H, Larrivée B, Lee MY, Mettlen M, Schmid SL, Roman BL, Qyang Y, Eichmann A, Jin SW: Context-dependent proangiogenic function of bone morphogenetic protein signaling is mediated by disabled homolog 2. Dev Cell. 2012 Aug 14. PMID: 22898784 Alcon A, Cagavi Bozkulak E, Qyang Y: Regenerating functional heart tissue for myocardial repair. Cell Mol Life Sci. 2012 Aug; 2012 Mar 3. PMID: 22388688 Hibino N, Duncan DR, Nalbandian A, Yi T, Qyang Y, Shinoka T, Breuer CK: Evaluation of the use of an induced puripotent stem cell sheet for the construction of tissue-engineered vascular grafts. J Thorac Cardiovasc Surg. 2012 Mar; 2012 Jan 12. PMID: 22244569 Amos PJ, Cagavi Bozkulak E, Qyang Y: ...
http://ycvrc.yale.edu/facultylabs/qyang.aspx
Zsolt Urban<...Zsolt Urban<...
Su CT, Huang JW, Chiang CK, Lawrence EC, Levine KL, Dabovic B, Jung C, Davis EC, Madan-Khetarpal S, Urban Z. (2015) Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. Hum Mol Genet 24:4024-4036.. Misra A, Sheikh AQ, Kumar A, Luo J, Zhang J, Hinton RB, Smoot L, Kaplan P, Urban Z, Qyang Y, Tellides G, Greif DM. (2016) Integrin beta3 inhibition as a therapeutic strategy for supravalvular aortic stenosis. J Exp Med 213:451-453.. Minster RL, Hawley NL, Su CT, Sun G, Kershaw EE, Cheng H, Buhule OD, Lin J, Reupena MS, Viali S, Tuitele J, Naseri T, Urban Z, Deka R, Weeks DE, McGarvey ST (2016) A thrifty variant in CREBRF strongly influences body mass index in Samoans. Nat Genet 48:1049-1054.. ...
http://www.publichealth.pitt.edu/home/directory/zsolt-urban
Rapitful Shqip: Supravalvular stenosisRapitful Shqip: Supravalvular stenosis
Shqip, programe,libra,fjalor,analiza,referate,kuriozitete,fjale te urta,takvimi,gramatike,gjuhe dhe letersi,mjekesi,namazi, shendetesi,lojra,
http://rapitful.blogspot.com/search/label/Supravalvular%20stenosis
Heart failure after long-term supravalvular aortic constriction in ratsHeart failure after long-term supravalvular aortic constriction in rats
Gradual constriction of the rat aorta resulted in heart failure after a variable length of time (3 to 18 months). Despite differences in genotype, the ultimate phenotype associated with the transition to failure in the aorta-banded rat is nearly identical to that observed in the aged spontaneously h …
https://pubmed.ncbi.nlm.nih.gov/15752948/
Wallman Wanderings ~*~ Following Jesus Wherever He Leads: Heart TalkWallman Wanderings ~*~ Following Jesus Wherever He Leads: Heart Talk
1. Mild Peripheral Pulmonary Stenosis. This is the 2 valves that go from the heart to each lung. They should form a Y shape or even a right angle, but Isaacs are at an acute angle. Its fairly common in infants because everything is so squished up in there. More than likely he will outgrow this by the time hes one. It isnt causing any problems, so no cause for concern. Well do another echo in three months to check on it ...
http://wallmanwanderings.blogspot.com/2010/12/heart-talk.html
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome - Full Text View - ClinicalTrials.govEfficacy of Minoxidil in Children With Williams-Beuren Syndrome - Full Text View - ClinicalTrials.gov
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.. Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.. These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.. Minoxidil is a well-known antihypertensive drug used in adults and children. Furthermore, according to ...
https://clinicaltrials.gov/ct2/show/NCT00876200?cond=%22Williams+syndrome%22&rank=4
Williams syndrome - WikipediaWilliams syndrome - Wikipedia
Williams syndrome (WS) is a developmental disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose, and full cheeks, an appearance that has been described as elfin. Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with language are typical. Those affected often have an outgoing personality and interact readily with strangers. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss ...
https://en.wikipedia.org/wiki/Williams_syndrome
Supravalvar AS vs valvar and subvalvular ASSupravalvar AS vs valvar and subvalvular AS
Murmur of subvalvular aortic stenosis is unlikely to radiate to the carotids. Murmur of supravalvar aortic stenosis may radiate more to the right carotid.
https://cardiophile.org/differentiation-of-supravalvar-aortic-stenosis-from-valvar-and-subvalvular-variety/
Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome | CirculationBalloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome | Circulation
For initial dilations, baseline and postdilation values for systolic pulmonary artery pressure distal to a stenosis were measured in 20 vessels (18%) and a systolic pressure gradient across the segment was measured in 12 vessels (11%). For 8 successful dilations, the initial distal pressure was 20±10 mm Hg, postdilation pressure 47±29 mm Hg (P=0.03), initial gradient (available for 5 dilations) 76±37 mm Hg, and postdilation gradient 56±37 mm Hg (P=0.09). For 12 failed dilations, baseline pulmonary pressure was 22±7 mm Hg, postdilation pressure 29±12 mm Hg (P=0.02), initial gradient (available for 7 dilations) 42±18 mm Hg, and postdilation gradient 39±18 mm Hg (P=0.25).. Baseline and postdilation measurements of RV and aortic systolic pressures were available for 25 interventional procedures. Comparisons were not made in 14 procedures because of death (3 patients), presence of a nonrestrictive ventricular septal defect (2 patients), or an unavailable pressure value (9 procedures). Mean RV ...
http://circ.ahajournals.org/content/103/17/2165
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.
A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. Deletion of a functi
http://www.biomedsearch.com/nih/Reduction-NADPH-Oxidase-Activity-Ameliorates/22319452.html
Matrix Gla proteinMatrix Gla protein
This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016 ...
https://pharos.nih.gov/idg/targets/P08493
Animal Models of Williams Syndrome | Williams Syndrome AssociationAnimal Models of Williams Syndrome | Williams Syndrome Association
LUCY R. OSBORN, 2010. Abstract: In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS).. The mouse genome is easily manipulated to produce animals that are copies of humans with genetic conditions, be it with null mutations, hypomorphic mutations, point mutations, or even large deletions encompassing many genes. The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. However, not all genes that are haploinsufficient in humans prove to be so in mice and the effect of genetic background can also have a significant effect on the penetrance of many phenotypes. Thus although mouse models are powerful tools, the information garnered from their ...
https://williams-syndrome.org/resources/medical-journal-article/animal-models-of-williams-syndrome
Tissue expression of ELN - Staining in ovary - The Human Protein AtlasTissue expression of ELN - Staining in ovary - The Human Protein Atlas
Expression of ELN (SVAS, WBS, WS) in ovary tissue. Antibody staining with HPA018111, HPA056941 and CAB010750 in immunohistochemistry.
http://www.proteinatlas.org/ENSG00000049540-ELN/tissue/ovary
Tissue expression of ELN - Staining in soft tissue 2 - The Human Protein AtlasTissue expression of ELN - Staining in soft tissue 2 - The Human Protein Atlas
Expression of ELN (SVAS, WBS, WS) in soft tissue 2 tissue. Antibody staining with HPA018111, HPA056941 and CAB010750 in immunohistochemistry.
http://www.proteinatlas.org/ENSG00000049540-ELN/tissue/soft+tissue+2
What is Aortic Stenosis in PugsWhat is Aortic Stenosis in Pugs
The aorta is the largest artery in the body. It is the main blood vessel that serves as a passageway for oxygen-filled blood to pass from the left side of the heart to be distributed throughout the entire body. Aortic stenosis may be due to the malformation of the aorta or a defect in the left ventricle.
https://www.pugvillage.com/pug-health/what-aortic-stenosis
Aortic Stenosis -- Child | Doctors HospitalAortic Stenosis -- Child | Doctors Hospital
Learn more about Aortic Stenosis -- Child at Doctors Hospital of Augusta DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
https://doctors-hospital.net/hl/?/2010817716/Aortic-Stenosis----Child&com.dotmarketing.htmlpage.language=1
Aortic Stenosis -- Adult | Coliseum Health SystemAortic Stenosis -- Adult | Coliseum Health System
Learn more about Aortic Stenosis -- Adult at Coliseum Health System DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
https://coliseumhealthsystem.com/hl/?/12042/sp
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Chromosomal: Williams Syndrome: OrganizationsDMOZ - Health: Conditions and Diseases: Neurological Disorders: Chromosomal: Williams Syndrome: Organizations
This category is for all associations or organizations that promote education, research, and advocacy for patients with Williams Syndrome, their families and caregivers.
http://dmoztools.net/Health/Conditions_and_Diseases/Neurological_Disorders/Chromosomal/Williams_Syndrome/Organizations/
Gene Expression: Williams syndrome in <i>The New York Times...Gene Expression: Williams syndrome in <i>The New York Times...
David Dobbs has an interesting article in The New York Times Magazine about Williams syndrome; a disorder characterized by verbosity and hypersociality in concert with abstraction capacities so attenuated that most suffers are mentally retarded. The piece juggles many phenomena, from general to domain specific intelligences and the interaction between environment and genetic biases which shape the minds developmental arc ...
http://www.gnxp.com/blog/2007/07/williams-syndrome-in-new-york-times.php
Williams syndrome - Better Health ChannelWilliams syndrome - Better Health Channel
Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life.
https://www.betterhealth.vic.gov.au/health/ConditionsAndTreatments/williams-syndrome
A Peeko At Niko: Williams Syndrome: August 2005A Peeko At Niko: Williams Syndrome: August 2005
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
http://williamssyndrome.blogspot.com/2005/08/
A Peeko At Niko: Williams Syndrome: 2005A Peeko At Niko: Williams Syndrome: 2005
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
http://williamssyndrome.blogspot.com/2005/
Download Williams SyndromeDownload Williams Syndrome
download Williams Syndrome was for the Genome identification. Species A + expansion novel takes to the vehicle that the declared scrap for analytics A and B Did been in the same hardware. When excellent meats were collected Extending the four collaborative PCR materials dedicated by Pentimalli et al. C under sequential bacteria.
http://krin.de/Garfield/pdf/download-Williams-Syndrome---A-Bibliography-and-Dictionary-for-Physicians%2C-Patients%2C-and-Genome-Researchers-2007.php
Pens - Williams Syndrome FoundationPens - Williams Syndrome Foundation
Williams Syndrome Foundation, Box 103, Charter House, Lord Montgomery Way, Portsmouth, PO1 2SN.. Please post all correspondence to the Portsmouth address. Any post sent to the old Tonbridge address will not be passed on.. ...
https://williams-syndrome.org.uk/product/pens/?add-to-cart=1771
Walk4Williams 2020: #EverywhereWSA | Williams Syndrome AssociationWalk4Williams 2020: #EverywhereWSA | Williams Syndrome Association
Our Virtual #Walk4Williams, #EverywhereWSA, is crucial to the success of the Williams Syndrome Association this year. With the help of our families and friends, we hope to raise the critical funding to help today and throughout 2020 as we reimagine how we will provide resources and programming.
https://williams-syndrome.org/walk4williams-2020-everywherewsa
High Doses of Zinc in Williams Syndrome - InfantRisk ForumsHigh Doses of Zinc in Williams Syndrome - InfantRisk Forums
We have a mother who is taking a high dose of zinc (220mg three times daily) as a treatment for Williams Syndrome. Her baby is late pre-term (35 weeks). Is it
https://www.infantrisk.com/forum/forum/medications-and-breastfeeding-mothers/9235-high-doses-of-zinc-in-williams-syndrome?view=thread
Fundraiser for Samantha Devary by Kelsey Rae Braaten : Westons Williams Syndrome storyFundraiser for Samantha Devary by Kelsey Rae Braaten : Westons Williams Syndrome story
My name is Kelsey Braaten and I work with Sam and Dustin Devary. I wanted to help … Kelsey Rae Braaten needs your support for Westons Williams Syndrome story
https://www.gofundme.com/f/westondevary
Nationwide Clinical Consortium and Comprehensive Research Network for Williams Syndrome EstablishedNationwide Clinical Consortium and Comprehensive Research Network for Williams Syndrome Established
Troy, MI (PRWEB) October 16, 2020 -- The Williams Syndrome Association, Inc. (WSA) has created a nationwide consortium and comprehensive research network to
https://www.prweb.com/releases/nationwide_clinical_consortium_and_comprehensive_research_network_for_williams_syndrome_established/prweb17467841.htm
نشانگان ویلیامز - ویکی‌پدیا، دانشنامهٔ آزادنشانگان ویلیامز - ویکی‌پدیا، دانشنامهٔ آزاد
نشانگان ویلیامز یا سندروم ویلیامز-بویرن (انگلیسی: Williams syndrome) (اختصاری WBS) یک نارسایی رشد عصبی نادر است که در آن چهره به سبب افتادگی پل دماغی به شکل پری‌وار درمی‌آید.[۱] مبتلایان به این نشانگان، به شکل نامعمولی خوشرو و شاد و با ناآشنایان صمیمی هستند. اختلال‌های تحولی، لکنت زبان، نارسایی دیدی-فضایی، مشکلات قلبی مانند تنگی دریچه آئورت و هایپرکلسمی ناپایدار از دیگر نشانه‌های این نشانگان هستند. نشانگان ویلیامز یک نشانگان ریزحذفی است که به دلیل حذف خودبخودی مادهٔ ژنتیکی از منطقهٔ q11.23 در کروموزوم ۷ بروز می‌کند.[۲] تاکنون برای نشانگان ویلیامز درمانی یافت ...
https://fa.wikipedia.org/wiki/%D9%86%D8%B4%D8%A7%D9%86%DA%AF%D8%A7%D9%86_%D9%88%DB%8C%D9%84%DB%8C%D8%A7%D9%85%D8%B2
Aortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional EditionAortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional Edition
Learn about the causes, symptoms, diagnosis & treatment of Valvular Disorders from the Professional Version of the Merck Manuals.
http://www.merckmanuals.com/professional/cardiovascular-disorders/valvular-disorders/aortic-stenosis?Ref=n&RefId=x&Plugin=WMP&Speed=256&ItemId=v938608
Aortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional EditionAortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional Edition
PLOS Computational Biology: Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren SyndromePLOS Computational Biology: Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome
Author Summary A fundamental question in current biomedical research is to establish a link between genomic variation and phenotypic differences, which encompasses both the seemingly neutral diversity, as well as the pathological variation that causes or predisposes to disease. Once the primary genetic cause(s) of a disease or phenotype has been identified, we need to understand the biochemical consequences of such variants that eventually lead to increased disease risk. Such phenotypic effects of genetic differences are supposedly brought about by changes in expression levels, either of the genes affected by the genetic change or indirectly through position effects. Thus, transcriptome analyses seem appropriate proxies to study the consequences of structural variation, such as the 7q11.23 deletion present in individuals with Williams-Beuren syndrome (WBS). Here, we present an approach that takes experimental data into account instead of relying solely on functional annotation, following the rationale
http://journals.plos.org/ploscompbiol/article/figure?id=10.1371/journal.pcbi.1001054.g001
Aortic Valve Stenosis - Aortic Stenosis Summary Report | CureHunterAortic Valve Stenosis - Aortic Stenosis Summary Report | CureHunter
Aortic Valve Stenosis: A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
http://www.curehunter.com/public/keywordSummaryD001024-Aortic-Valve-Stenosis-Aortic-Stenosis.do
Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndromeUse of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome
La síndrome de Williams-Beuren és una malaltia del neurodesenvolupament causada per una deleció comú dentre 26 i 28 gens contigus a la regió 7q11.23, dificultant lestabliment de relacions genotip-fenotip. Lús de models de ratolí pot augmentar el coneixement sobre la malaltia, el paper dels gens delecionats, les vies moleculars afectades i els futurs tractaments. En aquesta tesi shan usat diversos models de ratolí, les seves cèl·lules i teixits per tal de descriure i definir fenotips, gens i vies moleculars desregulades i per descobrir elements modificadors i nous tractaments. Per últim, sha definit un nou motiu dunió per Gtf2i, uns dels gens delecionats que codifica per un factor de transcripció amb un rol central en la síndrome, proporcionats possible nous gens diana de vies moleculars desregulades. Els resultats obtinguts revelen el paper essencial dels models de ratolí per a lestudi de la síndrome de Williams-Beuren, proporcionen noves opcions terapèutiques i ...
http://www.tdx.cat/handle/10803/101408
Anthrozoos - Virginia Commonwealth UniversityAnthrozoos - Virginia Commonwealth University
Barker, S.B., Barker, R.T., McCain, N.L, and Schubert, C.M. (2016). A randomized crossover exploratory study of the effect of visiting therapy dogs on college student stress before final exams. Anthrozoos, 29 (1), 35-46.. This exploratory study investigated the effect of visiting therapy dogs on college student perceived and physiological stress the week prior to final exams. Students (n=78) were randomly assigned to order of a therapy dog intervention and attention-control condition, each 15 minutes long. Students completed the Perceived Stress Scale (PSS), a stress visual analog scale (SVAS), and provided saliva for measuring nerve growth factor (sNGF) and alpha amylase (sAA) prior to randomization. Saliva samples and SVAS were again collected after each condition. There was no effect of group order on demographics, PSS, or initial SVAS. Repeated measures models were used to analyze the complete data sets of 57 students. There were no significant differences in sAA between or within students ...
https://chai.vcu.edu/research/abstracts/Anthrozoos2020152.html
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. - PubMed - NCBITransitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. - PubMed - NCBI
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
https://www.ncbi.nlm.nih.gov/pubmed/17658187
Role of the Renal Nerves in Renin Release during Suprarenal Aortic Stenosis in Cats | Clinical Science | Portland PressRole of the Renal Nerves in Renin Release during Suprarenal Aortic Stenosis in Cats | Clinical Science | Portland Press
1. Renin release from an intact, innervated kidney and from the contralateral denervated kidney was measured before and during a period of suprarenal aortic stenosis.. 2. Aortic stenosis of 10 min duration reduced renal perfusion pressure to 50 mmHg and increased renin release from both kidneys, but the response from the innervated kidney was greater.. 3. A study of the time-course of the response during 30 min of aortic stenosis showed that the difference in rate of renin release between the innervated and the denervated kidney is greatest during the first few minutes of aortic stenosis. ...
https://portlandpress.com/clinsci/article-abstract/51/s3/85s/101529/Role-of-the-Renal-Nerves-in-Renin-Release-during
WHATS UP DOC? Williams syndrome - Entertainment & Life - The Swampscott Reporter - Swampscott, MAWHATS UP DOC? Williams syndrome - Entertainment & Life - The Swampscott Reporter - Swampscott, MA
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
http://swampscott.wickedlocal.com/entertainmentlife/20171031/whats-up-doc-williams-syndrome
WHATS UP DOC? Williams syndrome - Entertainment & Life - Wicked Local West Roxbury - West Roxbury, MAWHATS UP DOC? Williams syndrome - Entertainment & Life - Wicked Local West Roxbury - West Roxbury, MA
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
http://west-roxbury.wickedlocal.com/entertainmentlife/20171031/whats-up-doc-williams-syndrome
WHATS UP DOC? Williams syndrome - Entertainment & Life - Somerville Journal - Somerville, MAWHATS UP DOC? Williams syndrome - Entertainment & Life - Somerville Journal - Somerville, MA
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
http://somerville.wickedlocal.com/entertainmentlife/20171031/whats-up-doc-williams-syndrome
WHATS UP DOC? Williams syndrome - Entertainment & Life - Holbrook Sun - Holbrook, MAWHATS UP DOC? Williams syndrome - Entertainment & Life - Holbrook Sun - Holbrook, MA
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
http://holbrook.wickedlocal.com/entertainmentlife/20171031/whats-up-doc-williams-syndrome
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes<...Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes<...
TY - JOUR. T1 - Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. AU - Botta, A.. AU - Novelli, G.. AU - Mari, A.. AU - Novelli, A.. AU - Sabani, M.. AU - Korenberg, J.. AU - Osborne, L. R.. AU - Digilio, M. C.. AU - Giannotti, A.. AU - Dallapiccola, B.. PY - 1999. Y1 - 1999. N2 - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.. AB - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker ...
https://moh-it.pure.elsevier.com/en/publications/detection-of-an-atypical-7q1123-deletion-in-williams-syndrome-pat
Neurologia Dziecięca Nr 36 Vol. 18/2009Neurologia Dziecięca Nr 36 Vol. 18/2009
Microduplication of the region 7q11.23 critical for Williams-Beuren syndrome - diagnostic problems presented on the base of the case of an eleven-month-old girl ...
http://www.ptnd.pl/nd/spis00.php?ndnr=36&ndvol=18&ndrok=2009&lang=en
RRH: Rural and Remote Health article: 2284 - Is there a rural gradient in the diagnosis of aortic stenosis? An analysis of a...RRH: Rural and Remote Health article: 2284 - Is there a rural gradient in the diagnosis of aortic stenosis? An analysis of a...
RRH: Rural and Remote Health. Published article number: 2284 - Is there a rural gradient in the diagnosis of aortic stenosis? An analysis of a remote Scottish cohort
https://www.rrh.org.au/journal/article/2284
Aortic Stenosis Treatment GuidelinesAortic Stenosis Treatment Guidelines
The 2012 ESC/EACTS guidelines for AS recommend replacement for Class I patients, i.e. those with severe AS and symptoms. TAVI is indicated in patients with severe symptomatic AS who are not suitable for AVR as assessed by a heart team and should be considered in high risk patients who may still be suitable for surgery, but in whom TAVI is favored by a heart team based on the individual risk profile.2 The 2008 ACC/AHA guidelines recommend that AVR should be performed in virtually all symptomatic patients with severe AS. Both guidelines stress that age is not a contraindication to surgery.2,3. Download Aortic Stenosis Brochure. ...
https://www.edwards.com/gb/procedures/aorticstenosis/guidelines
Aortic Stenosis: What Your Symptoms MeanAortic Stenosis: What Your Symptoms Mean
People with aortic stenosis can have chest tightness and shortness of breath -- or no symptoms at all. WebMD explains the different ways this type of valve disease can affect your heart.
https://www.webmd.com/heart-disease/aortic-stenosis-stages
Aortic Stenosis - Circulatory System - Merck Veterinary ManualAortic Stenosis - Circulatory System - Merck Veterinary Manual
Learn about the veterinary topic of Aortic Stenosis. Find specific details on this topic and related topics from the Merck Vet Manual.
http://www.merckvetmanual.com/en-pr/circulatory-system/congenital-and-inherited-anomalies-of-the-cardiovascular-system/aortic-stenosis
Need help coding Williams SyndromeNeed help coding Williams Syndrome
Does any one know the icd-9-cm code for Williams Syndrome? I have looked through the book and cannot find this syndrome under anything.
https://www.aapc.com/memberarea/forums/8997-help-coding-williams-syndrome.html
Williams syndrome associated Celiac Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comWilliams syndrome associated Celiac Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Williams syndrome associated Celiac Disease information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
http://www.rightdiagnosis.com/w/williams_syndrome_associated_celiac_disease/intro.htm
Download Williams SyndromeDownload Williams Syndrome
have you Experiencing for download Williams on PreventionWeb? We are emitting number on our successes. The download is recently blocked.
http://mirabo.net/images/ebooks/download-Williams-Syndrome---A-Bibliography-and-Dictionary-for-Physicians%2C-Patients%2C-and-Genome-Researchers-2007.php
Elastina - Wikipédia, a enciclopédia livreElastina - Wikipédia, a enciclopédia livre
... and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis ...
https://pt.wikipedia.org/wiki/Elastina
Ed HelmsEd Helms
... which he described as supravalvular aortic and pulmonic stenosis.[2][3] According to Helms, his surgery lasted nine hours and ...
https://en.wikipedia.org/wiki/Ed_Helms
ElastinElastin
Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis ... "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis". Cell. 73 (1): 159-168. doi: ... and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis ...
https://en.wikipedia.org/wiki/Elastin
Williams syndromeWilliams syndrome
... specifically supravalvular aortic stenosis and supravalvular pulmonary stenosis) found in many people with this syndrome. The ... Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common. ... commonly heart murmurs and the narrowing of major blood vessels as well as supravalvular aortic stenosis. Other symptoms may ... who wrote in 1961 of four patients with supravalvular aortic stenosis, mental disability, and facial features including a broad ...
https://en.wikipedia.org/wiki/Williams_syndrome
Sindrom Williams Bahasa Melayu, ensiklopedia bebasSindrom Williams Bahasa Melayu, ensiklopedia bebas
... khususnya aortic stenosis supravalvular dan stenosis pulmonari supravalvular. ) yang terdapat pada ramai pesakit dengan sindrom ... Beuren AJ (1972). "Supravalvular aortic stenosis: a complex syndrome with and without mental retardation". Birth defects Orig ... Williams JC, Barratt-Boyes BG, Lowe JB (1961). "Supravalvular aortic stenosis". Circulation. 24: 1311-8. PMID 14007182.. ... Beuren AJ, Apitz J, Harmjanz D (1962). "Supravalvular aortic stenosis in association with mental retardation and a certain ...
https://ms.wikipedia.org/wiki/Sindrom_Williams
ElastinElastin
"The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis". Cell 73 (1): 159-68. PMID ... and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis ...
https://sh.m.wikipedia.org/wiki/Elastin
Systolic heart murmurSystolic heart murmur
Supravalvular aortic stenosis is loudest at a point slightly higher than in that of valvular AS and may radiate more to the ... Aortic outflow obstruction (Aortic stenosis) Can be due to aortic valve stenosis or hypertrophic cardiomyopathy (HCM), with a ... The second most common cause is congenital bicuspid aortic valves (normal valve is tricuspid). In aortic stenosis, heaving ... Valvular aortic stenosis can produce a harsh, or even a musical murmur over the right second intercostal space which radiates ...
https://en.m.wikipedia.org/wiki/Systolic_murmur
HaploinsufficiencyHaploinsufficiency
The hemizygosity of the elastinis is responsible for supravalvular aortic stenosis, the obstruction in the left ventricular ...
https://en.wikipedia.org/wiki/Haploinsufficiency
Supravalvular aortic stenosisSupravalvular aortic stenosis
... is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least ... Supravalvular aortic stenosis is due to diffuse or discrete narrowing of ascending aorta. The murmur associated with it is ... Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in ... where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have ...
https://en.wikipedia.org/wiki/Supravalvular_aortic_stenosis
The Market CommonThe Market Common
It is named for Savannah Thompson, who has Williams syndrome and supravalvular aortic stenosis but has become the ambassador ...
https://en.wikipedia.org/wiki/The_Market_Common
List of dog diseasesList of dog diseases
The major clinical sign is fainting (syncope). Heart defects Subvalvular aortic stenosis (Subaortic stenosis; SAS) is a ... supravalvular). The most commonly affected breeds include terriers, Bulldogs, Miniature Schnauzers, Chihuahuas, Samoyeds, ... Pulmonic stenosis* is a congenital heart disease in dogs characterized by right ventricular outflow tract obstruction. Most ... Cauda equina syndrome*, also known as degenerative lumbosacral stenosis, in dogs is a compression of the cauda equina by a ...
https://en.wikipedia.org/wiki/List_of_dog_diseases
Shones syndromeShone's syndrome
... including mitral and aortic valvular lesions and supravalvular aortic stenosis. The term parachute mitral valve stems from the ... Supravalvular Ring of Left Atrium, Subaortic Stenosis and Coarctation of Aorta". Am J Cardiol. 11 (6): 714-25. doi:10.1016/0002 ... Subaortic stenosis has been observed in both muscular and membranous forms. In either case, a variable degree of obstruction ... In the complete form, four left-sided defects are present: Supravalvular mitral membrane (SVMM) Parachute mitral valve ...
https://en.wikipedia.org/wiki/Shone's_syndrome
List of diseases (A)List of diseases (A)
Aortic dissection lentiginosis Aortic supravalvular stenosis Aortic valve stenosis Aortic valves stenosis of the child Aortic ... Aortic aneurysm Aortic arch anomaly peculiar facies mental retardation Aortic arch interruption Aortic arches defect Aortic ... Cogan type Apudoma Aqueductal stenosis Aqueductal stenosis, X linked Arachindonic acid, absence of Arachnodactyly ... Schinzel type Acrocephalopolydactyly Acrocephalosyndactyly Jackson Weiss type Acrocephaly Acrocephaly pulmonary stenosis mental ...
https://en.wikipedia.org/wiki/List_of_diseases_(A)
Arterial switch operationArterial switch operation
supravalvular pulmonary stenosis was commonly observed in the postoperative period. A direct connection of the pulmonary artery ... Long-term predictors of aortic root dilation and aortic regurgitation after arterial switch operation. Circulation. 2004;110: ... In the postoperative period, increased incidence and degree of supravalvular pulmonary stenosis. Eliminating the pericardial ... If the aortic commissure has not yet been marked, it may be done at this point, using the same method as would be used prior to ...
https://en.wikipedia.org/wiki/Arterial_switch_operation
List of MeSH codes (C14)List of MeSH codes (C14)
... aortic valve stenosis MeSH C14.280.484.150.060 - aortic stenosis, supravalvular MeSH C14.280.484.150.060.960 - williams ... aortic aneurysm, thoracic MeSH C14.907.109.139.175 - aortic rupture MeSH C14.907.109.239 - aortic arch syndromes MeSH C14.907. ... aortic aneurysm, abdominal MeSH C14.907.055.239.125 - aortic aneurysm, thoracic MeSH C14.907.055.239.175 - aortic rupture MeSH ... aortic stenosis, subvalvular MeSH C14.280.484.150.070.160 - cardiomyopathy, hypertrophic MeSH C14.280.484.150.070.210 - ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C14)
Supravalvular aortic stenosis: MedlinePlus GeneticsSupravalvular aortic stenosis: MedlinePlus Genetics
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. Explore symptoms, inheritance, genetics of ... medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/ Supravalvular aortic stenosis. ... Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the ... Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med. 2006; ...
https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/
Supravalvular aortic stenosis - WikipediaSupravalvular aortic stenosis - Wikipedia
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least ... Supravalvular aortic stenosis is due to diffuse or discrete narrowing of ascending aorta. The murmur associated with it is ... Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in ... where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have ...
https://en.wikipedia.org/wiki/Supravalvular_aortic_stenosis
Supravalvular Aortic Stenosis | St. Louis Childrens HospitalSupravalvular Aortic Stenosis | St. Louis Children's Hospital
Supravalvular aortic stenosis (SVAS) is an uncommon vascular defect causing blood flow obstruction that usually develops in the ... For additional resources about supravalvular aortic stenosis, contact our Family Resource Center. ... This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the ... The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve ...
http://www.stlouischildrens.org/diseases-conditions/supravalvular-aortic-stenosis
Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic...Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic...
The lesions of the aortic root, which are supravalvular aortic stenosis and coronary ostial stenosis, in familial ... Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic ... Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic ... Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic ...
http://circ.ahajournals.org/content/67/4/878
Supravalvular Aortic Stenosis - Aortic Supravalvular Stenosis Summary Report | CureHunterSupravalvular Aortic Stenosis - Aortic Supravalvular Stenosis Summary Report | CureHunter
A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the ... Aortic Supravalvular Stenosis; Aortic Stenosis, Supravalvular; Aortic Supravalvular Stenoses; Stenoses, Aortic Supravalvular; ... Stenosis, Aortic Supravalvular; Stenosis, Supravalvular Aortic; Supravalvular Stenoses, Aortic; Supravalvular Stenosis, Aortic ... Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis). Subscribe to New Research on Supravalvular Aortic Stenosis ...
http://www.curehunter.com/public/keywordSummaryD021921-Supravalvular-Aortic-Stenosis-Aortic-Supravalvular-Stenosis.do
Presentation of a pseudoaneurysm as a supravalvular aortic stenosis 20 years after aortic root reconstructionPresentation of a pseudoaneurysm as a supravalvular aortic stenosis 20 years after aortic root reconstruction
... ... A 36-year-old patient was referred because of fatigue and decreased exercise tolerance 20 years after separate aortic valve ... a loud systolic ejection murmur and persistent left ventricular hypertrophy led to the diagnosis of severe supravalvular aortic ... replacement and aortic root reconstruction. The presence of ...
https://insights.ovid.com/ejcts/199804000/00002148-199804000-00021
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis<...A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis<...
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. / Olson, Timothy Mark; Michels, V. ... A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Human Molecular Genetics. 1995;4(9 ... A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. In: Human Molecular Genetics. 1995 ... title = "A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis", ...
https://mayoclinic.pure.elsevier.com/en/publications/a-30-kb-deletion-within-the-elastin-gene-results-in-familial-supr
Abstract | New four patch repair [Modified Broms] technique for supravalvular aortic stenosis | Cardiovascular SystemAbstract | New four patch repair [Modified Brom's] technique for supravalvular aortic stenosis | Cardiovascular System
... for repair of supravalvular aortic stenosis (SVAS). After transection of the aortaat the sinotubular junction, three ... Nagre S.W and Bendre S. New four patch repair [Modified Broms] technique for supravalvular aortic stenosis. Cardio Vasc Syst. ... Nagre S.W and Bendre S. New four patch repair [Modified Broms] technique for supravalvular aortic stenosis. Cardio Vasc Syst. ... New four patch repair [Modified Broms] technique for supravalvular aortic stenosis. Suraj Wasudeo Nagre* and Suhas Bendre ...
http://www.hoajonline.com/cardiovascsyst/abstract/2052-4358/4/1
Clinical Spectrum of Supravalvular Aortic Stenosis | JAMA Internal Medicine | JAMA NetworkClinical Spectrum of Supravalvular Aortic Stenosis | JAMA Internal Medicine | JAMA Network
SUPRAVALVULAR aortic stenosis is an unusual congenital entity with diverse clinical manifestations. An intense interest in this ... SUPRAVALVULAR aortic stenosis is an unusual congenital entity with diverse clinical manifestations. An intense interest in this ... Clinical Spectrum of Supravalvular Aortic Stenosis. Arch Intern Med. 1966;118(6):553-561. doi:10.1001/archinte. ...
https://jamanetwork.com/journals/jamainternalmedicine/article-abstract/573263
SUPRAVALVULAR AORTIC STENOSIS; SVAS | MENDELIAN.COSUPRAVALVULAR AORTIC STENOSIS; SVAS | MENDELIAN.CO
SUPRAVALVULAR AORTIC STENOSIS; SVAS description, symptoms and related genes. Get the complete information in our medical search ... Supravalvular Aortic Stenosis Is also known as supravalvar aortic stenosis, eisenberg type, svas. ... Based on the latest data available SUPRAVALVULAR AORTIC STENOSIS have a estimated prevalence of 13.3 per 100k worldwide. - No ... Supravalvular Aortic Stenosis Recommended genes panels. Panel Name, Specifity and genes Tested/covered. ...
https://www.mendelian.co/diseases/supravalvular-aortic-stenosis-svas
Supravalvular aortic stenosis Archives - Amsterdam UMC Genome DiagnosticsSupravalvular aortic stenosis Archives - Amsterdam UMC Genome Diagnostics
We use cookies for functional and analytical purposes. Please read our Privacy and cookie statement for more information. To continue you consent to the use of cookies. More information ...
https://genomediagnostics.amsterdamumc.nl/product-category/connective-tissue-disorders/supravalvular-aortic-stenosis-connective-tissue-disorders/
Natural cure for Aortic supravalvular stenosis and alternative treatmentsNatural cure for Aortic supravalvular stenosis and alternative treatments
Get natural cures for Aortic supravalvular stenosis that can make a difference in your life or the life of someone you love ... Aortic supravalvular stenosis in Texas. Aortic supravalvular stenosis in Utah. Aortic supravalvular stenosis in Vermont. Aortic ... Aortic supravalvular stenosis by state. Aortic supravalvular stenosis in Alabama. Aortic supravalvular stenosis in Alaska. ... Aortic supravalvular stenosis in Iowa. Aortic supravalvular stenosis in Kansas. Aortic supravalvular stenosis in Kentucky. ...
http://www.naturalcurefor.com/treatments/aortic-supravalvular-stenosis
the birth and life of Margaret Brunson » Supravalvular Aortic Stenosisthe birth and life of Margaret Brunson » Supravalvular Aortic Stenosis
Tags: mild Supravalvular Aortic Stenosis, Supravalvular Aortic Stenosis. Posted in Uncategorized , 2 Comments » ... Supravalvular Aortic Stenosis…narrowing of the aorta just above the aortic valve) was as mild as it could be and still be there ... Tags: FISH test, Supravalvular Aortic Stenosis, Williams Syndrome. Posted in Williams Syndrome , 3 Comments » ... "how serious is Supravalvular Aortic Stenosis." This blog is actually listed on the first page of results for that particular ...
http://maggiebrunson.com/?tag=supravalvular-aortic-stenosis
Supravalvular aortic stenosis: Long-term results of surgical treatment<...Supravalvular aortic stenosis: Long-term results of surgical treatment<...
3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as ... 3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as ... 3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as ... 3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as ...
https://mayoclinic.pure.elsevier.com/en/publications/supravalvular-aortic-stenosis-long-term-results-of-surgical-treat
Dr. Robert Hanfland MDDr. Robert Hanfland MD
Hayes Story: Supravalvular Aortic Stenosis. Hayes appeared to be a perfectly healthy newborn. Three hours after birth, however ...
http://www.memorialhermann.org/doctors/thoracic-surgeons/dr-robert-hanfland-md-646482/
Surgical repair of congenital supravalvular aortic stenosis in children | Read by QxMDSurgical repair of congenital supravalvular aortic stenosis in children | Read by QxMD
OBJECTIVE: Supravalvular aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly characterized by varying degrees of ... Surgical repair of congenital supravalvular aortic stenosis in children. John W Brown, Mark Ruzmetov, Palaniswamy Vijay, Mark W ... whereas those with diffuse SVAS required either an apical aortic conduit or extensive endarterectomy with patch aortoplasty. ... left ventricular outflow tract obstruction beginning distal to the aortic valve.. METHODS: Between March 1962 and December 2000 ...
https://read.qxmd.com/read/11788256/surgical-repair-of-congenital-supravalvular-aortic-stenosis-in-children
Supravalvular aortic stenosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramSupravalvular aortic stenosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Supravalvular aortic stenosis ... Supravalvular aortic stenosis Title Other Names:. SVAS; Supravalvar aortic stenosis, Eisenberg type; Aortic supravalvular ... Supravalvular aortic stenosis. Genetics Home Reference. May 2012; http://ghr.nlm.nih.gov/condition/supravalvular-aortic- ... Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing ( ...
https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=24001
Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia -...Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia -...
Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS ... Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS ... Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia ... Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia ...
https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=phg&id=45125
60 seconds to diagnosis final60 seconds to diagnosis final
ANSWER • Williams syndrome • Hypercalcemia • Elfin facies • Cocktail party manner • Supravalvular aortic stenosis ...
https://www.slideshare.net/RobbinsSebastian/60-seconds-to-diagnosis-final
Health Care Supervision for Children With Williams Syndrome | AMERICAN ACADEMY OF PEDIATRICS | PediatricsHealth Care Supervision for Children With Williams Syndrome | AMERICAN ACADEMY OF PEDIATRICS | Pediatrics
1972) Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Natl Found March Dimes Birth ... 4 The most common cardiovascular defect is supravalvar aortic stenosis, an often progressive condition that may require ... most commonly supravalvar aortic stenosis [80%]), mental retardation (75%), a characteristic cognitive profile (90%), and ... Coarctation of the aorta, renal artery stenosis, and systemic hypertension are complications that when present may worsen over ...
http://pediatrics.aappublications.org/content/107/5/1192.full
Atypical initial presentation of Takayasu arteritis as isolated supra-valvular aortic stenosis | Journal of Cardiothoracic...Atypical initial presentation of Takayasu arteritis as isolated supra-valvular aortic stenosis | Journal of Cardiothoracic...
... supra-valvular aortic stenosis caused by Takayasu arteritis. A 32-year-old female was diagnosed with supra-valvular aortic ... Under the impression of non-familial sporadic type of supra-valvular aortic stenosis, surgical correction was performed. ... Takayasu arteritis should be considered in adult female patients presenting supra-valvular aortic stenosis with constitutional ... stenosis by transthoracic echocardiography for the evaluation of cardiac murmur with constitutional symptoms. ...
https://cardiothoracicsurgery.biomedcentral.com/articles/10.1186/s13019-016-0408-0
Similar articles for PubMed (Select 22049077) - PubMed - NCBISimilar articles for PubMed (Select 22049077) - PubMed - NCBI
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis ... Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. ... application to Willams-Beuren syndrome and supravalvular aortic stenosis.. Zhang P, Huang A, Morales-Ruiz M, Starcher BC, Huang ... Hypertension and decreased aortic compliance due to reduced elastin amounts do not increase atherosclerotic plaque accumulation ...
https://www.ncbi.nlm.nih.gov/pubmed?LinkName=pubmed_pubmed&from_uid=22049077
Oxygenation of the Cerebrum and Cooling During Transcatheter Aortic Valve Implantation (TAVI) Procedures - Part II - Full Text...Oxygenation of the Cerebrum and Cooling During Transcatheter Aortic Valve Implantation (TAVI) Procedures - Part II - Full Text...
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Transcatheter aortic-valve implantation for aortic stenosis in patients who cannot undergo surgery. N Eng J Med 2010;363:1597- ... Aortic Valve Stenosis Stroke Device: targeted brain cooling (33°C) by RhinoChill device Device: Placebo - current clinical ... Aortic Valve Stenosis. Heart Valve Diseases. Heart Diseases. Cardiovascular Diseases. Ventricular Outflow Obstruction. ...
https://clinicaltrials.gov/ct2/show/NCT01822964?term=stroke+AND+san+diego&recr=Open&rank=17
Platelet Reactivity After TAVI: A Multicenter Pilot Study - Full Text View - ClinicalTrials.govPlatelet Reactivity After TAVI: A Multicenter Pilot Study - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis Drug Information available for: Aspirin Clopidogrel ... Severe Aortic Valve Stenosis Transcatheter Aortic Valve Implantation Transcatheter Aortic Valve Replacement Drug: Ticagrelor 90 ... Transcatheter aortic-valve implantation for aortic stenosis in patients who cannot undergo surgery. N Engl J Med. 2010 Oct 21; ... Transcatheter aortic-valve replacement for inoperable severe aortic stenosis. N Engl J Med. 2012 May 3;366(18):1696-704. doi: ...
https://www.clinicaltrials.gov/ct2/show/NCT02224066?term=ASPIRIN+AND+clopidogrel&rank=74
Portico Re-sheathable Transcatheter Aortic Valve System US IDE Trial - Full Text View - ClinicalTrials.govPortico Re-sheathable Transcatheter Aortic Valve System US IDE Trial - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Mixed aortic valve disease (aortic stenosis and aortic regurgitation with predominant aortic regurgitation 3-4+). ... Aortic Valve Stenosis Device: Portico transcatheter aortic valve Device: Commercially available transcatheter aortic valve Not ... Portico transcatheter aortic valve. Device: Portico transcatheter aortic valve St. Jude Medical transcatheter Portico aortic ...
https://clinicaltrials.gov/ct2/show/NCT02000115?term=portico&rank=1
Transfemoral & Transapical Placement of Aortic Balloon Expandable Transcatheter Valves Trial (JAPAN) - Full Text View -...Transfemoral & Transapical Placement of Aortic Balloon Expandable Transcatheter Valves Trial (JAPAN) - Full Text View -...
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Aortic Valve Stenosis Efficacy Endpoints Improvement of Aortic Valve Area and NYHA Functional Classification Drug: ... Clinical efficacy of transcatheter aortic valve replacement for severe aortic stenosis in high-risk patients: the PREVAIL JAPAN ... Aortic Valve Stenosis. Pathological Conditions, Anatomical. Heart Valve Diseases. Heart Diseases. Cardiovascular Diseases. ...
https://www.clinicaltrials.gov/ct2/show/NCT01113983
MGH Cardiovascular Images - Caseous Necrosis of the Mitral ValveMGH Cardiovascular Images - Caseous Necrosis of the Mitral Valve
... area luminal narrowing supravalvular aortic stenosis (green arrow) and collateral vessels secondary to supravalvular aortic ... The exam found residual post-surgical supravalvular aortic stenosis with collaterals (Figure 1), post-surgical stenosis of the ... Supravalvular Aortic Stenosis. Manavjot S. Sidhu, MD; Leif-Christopher Engel, MD; Vikram Venkatesh, MD;Ami Bhatt, MD; Brian B. ... A 51-year-old woman with a history of supravalvular aortic stenosis presented with new onset exertional dyspnea. Her history ...
https://www.massgeneral.org/imaging/news/cv-newsletter/june_2011/
Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive SynthesisHereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis
Supravalvular Aortic Stenosis. Supravalvular aortic stenosis (SVAS, OMIM# 185500) may occur as an autosomal dominant isolated ... Bicommisural Aortic Valve with Ascending Aortic Aneurysm. Bicommisural (bicuspid) aortic valve with ascending aortic aneurysm ( ... C. A. Morris, "Genetic aspects of supravalvular aortic stenosis," Current Opinion in Cardiology, vol. 13, no. 3, pp. 214-219, ... C. Stamm, I. Friehs, S. Y. Ho, A. M. Moran, R. A. Jonas, and P. J. Del Nido, "Congenital supravalvar aortic stenosis: a simple ...
https://www.hindawi.com/journals/srt/2011/712903/
Unstable Angina: Practice Essentials, Background, PathophysiologyUnstable Angina: Practice Essentials, Background, Pathophysiology
Supravalvular aortic stenosis * Obstructive cardiomyopathy * Aortovenous shunts * High-output states * Congestive heart failure ... Thus, the condition is distinct from stable angina, in which the typical underlying cause is a fixed coronary stenosis with ... Characteristic electrocardiographic pattern indicating a critical stenosis high in left anterior descending coronary artery in ... about 67 years for carotid artery stenosis, and 63 years for congestive heart failure. On average, women with unstable angina ...
https://emedicine.medscape.com/article/159383-overview
Method for williams-beuren syndrome diagnosis - OSBORNE LUCY R.Method for williams-beuren syndrome diagnosis - OSBORNE LUCY R.
Proband 11719 was a neonate with severe supravalvular aortic stenosis and hydrops fetalis (von Dadelszen et al., (2000)), who ... associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am ...
https://www.freepatentsonline.com/y2005/0130149.html
SVASAortaSupravalvarBicuspidSubvalvularCardiacObstructionInsufficiencyPulmonary artery stenosisAneurysmParticularly supravalvular aortic sPulmonic stenosisRegurgitationPeripheral pulmonaryCardiovascularValvular diseaseSupra-valvular aortic stenosisSymptomaticArterySubaorticFamilialDiffuseAbnormalitiesVentricularDilationDefectMental retardationValve ImplantationNarrowingPatients with aorticInterventionWilliamsSurgical aortic valve replaArchTetralogyTricuspidTranscatheter aortic valvePathological constrictionChildren and young adults with cSyndromeAutosomalOutflow
SVAS23
  • Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. (medlineplus.gov)
  • Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs ( the pulmonary artery ). (medlineplus.gov)
  • If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. (medlineplus.gov)
  • Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS. (medlineplus.gov)
  • Supravalvular aortic stenosis (SVAS) is an uncommon vascular defect causing blood flow obstruction that usually develops in the first few years of life. (stlouischildrens.org)
  • The objective of this paper is to describe the novel four-patch technique [modified Brom's] for repair of supravalvular aortic stenosis (SVAS). (hoajonline.com)
  • SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). (mendelian.co)
  • Supravalvular Aortic Stenosis Is also known as supravalvar aortic stenosis, eisenberg type, svas. (mendelian.co)
  • Supravalvular aortic stenosis (SVAS) is a fixed form of congenital left ventricular outflow tract (LVOT) obstruction that arises as a localized or a diffuse narrowing of the ascending aorta beyond the superior margin of the sinuses of Valsalva. (naturalcurefor.com)
  • Supravalvular aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly characterized by varying degrees of left ventricular outflow tract obstruction beginning distal to the aortic valve. (qxmd.com)
  • Those with localized SVAS were successfully treated with patch aortoplasty, whereas those with diffuse SVAS required either an apical aortic conduit or extensive endarterectomy with patch aortoplasty. (qxmd.com)
  • Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. (cdc.gov)
  • Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa . (wikipedia.org)
  • Supravalvular aortic stenosis (SVAS) was diagnosed in 32/44 (73%), pulmonary arterial stenosis (PAS) in 18/44 (41%), aortic or mitral valve defect in 5/44 (11 %) of cases, and tetralogy of Fallot in one (2%) case. (bmj.com)
  • 2- 4 Previous reports suggest that hemizygosity of the elastin gene is responsible for the typical vasculopathy of WS, namely supravalvular aortic stenosis (SVAS) and pulmonary arterial stenosis (PAS). (bmj.com)
  • The syndrome is associated with dysmorphic facies, neurological manifestations, idiopathic hypercalcemia, and cardiac abnormalities, particularly supravalvular aortic stenosis (SVAS) ( 1 ). (ispub.com)
  • E ditor -Williams syndrome (WS) is generally characterised by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis (SVAS), and idiopathic infantile hypercalcaemia. (bmj.com)
  • A related disorder is the supravalvular aortic stenosis (SVAS, OMIM #185500) phenotype. (biomedcentral.com)
  • Defects in ELN are the cause of supravalvular aortic stenosis (SVAS) [MIM:185500]. (abcam.com)
  • A cardiovascular problem called Supravalvular Aortic Stenosis (SVAS) can be associated with Williams Syndrome. (aapos.org)
  • A 9-year-old-boy with characteristic facies (broad forehead, periorbital fullness, upturned nose, long philtrum, full lips, small chin, and prominent cheeks) (Figure 1) and presenting with progressive dyspnea and mental retardation underwent transthoracic echocardiography, which revealed supravalvular aortic stenosis (SVAS). (medworm.com)
  • Authors: Shin HJ, Shin JS Abstract Supravalvar aortic stenosis (SVAS) is a rare congenital cardiac disease that usually co-occurs with Williams syndrome. (medworm.com)
  • Here, we present a case of successful surgical treatment using an autologous excised aortic patch in a 65-year-old patient with SVAS. (medworm.com)
Aorta21
  • This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). (medlineplus.gov)
  • The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). (medlineplus.gov)
  • Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least common type of aortic stenosis. (wikipedia.org)
  • Supravalvular aortic stenosis is due to diffuse or discrete narrowing of ascending aorta. (wikipedia.org)
  • one patient had a graft placed between the ascending and descending thoracic aorta and one patient had a left ventricular-aortic conduit. (elsevier.com)
  • It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). (cdc.gov)
  • Coarctation of the aorta, renal artery stenosis, and systemic hypertension are complications that when present may worsen over time. (aappublications.org)
  • The hypothesis behind this study is that by local cooling of the brain during manipulation of the calcified aorta and aortic valve, the brain might be protected from cerebral ischemic insults. (clinicaltrials.gov)
  • An echocardiogram is performed the following day and demonstrates a coarctation of the aorta and bicuspid aortic valve. (hawaii.edu)
  • A MRI shows a discrete narrowing of the distal aortic arch just beyond the origin of the left subclavian artery and also reveals an aberrant right subclavian artery originating from the proximal descending aorta below the coarctation. (hawaii.edu)
  • Diminutive Porcelain Ascending Aorta with Supravalvular Aortic Stenosis. (bioportfolio.com)
  • The coronary arteries are usually perpendicular to the aortic wall and they are radially arranged relative to the center of the aorta. (wikidoc.org)
  • dan masalah jantung, seperti stenosis aorta supravalvular dan hypercalcaemia sementara. (wikipedia.org)
  • Sindrom Williams buat kali pertama digambarkan oleh Dr JCP Williams dan rakan-rakannya, yang telah menulis pada 1961, empat pesakit dengan supravalvular stenosis aorta, kecacatan mental, dan ciri-ciri muka termasuk dahi yang luas, pipi "terkulai" rendah, mata selang jauh, dan mulut lebar. (wikipedia.org)
  • There is a figure-three sign in the left upper mediastinum secondary to hypoplasia of the aortic arch with poststenotic dilation of the aorta infra-coarctation. (bcm.edu)
  • The authors demonstrate how to use one homograft root in reoperative infected aortic root/hemiarch reconstruction with the use of a handmade bovine pericardial aortic tube to replace the ascending aorta and unite the divided homograft. (ctsnet.org)
  • Cardiac catheterisation confirmed these findings without involvement of the leaflets or the rest of the ascending aorta, and no evidence of aortic insufficiency. (bmj.com)
  • This recognizable entity combines mental retardation with a happy demeanor, typical facial gestalt, a soft, slightly elastic and doughy skin, hypercalcaemia, and arterial stenoses, mainly of the supravalvular aorta. (biomedcentral.com)
  • This review describes the arrangement of the aortic root in terms of the attachment of the aortic valvar leaflets, and their relations to the aorta and its ventricular support. (bmj.com)
  • For further evaluation, he was referred for computed tomography angiography (CTA) which demonstrated diffuse, long-segment stenosis of the ascending aorta along with significant ostioproximal stenosis of the right brachiocephalic artery and left common carotid artery with diffuse dilatation of the post-ostial segments (Figure 2A-B). (medworm.com)
  • It can result from some defect or malformation of a heart valve (valvular aortic stenosis), by an obstruction in that part of the aorta known as the ascending aorta (supravalvular aortic stenosis), or by an obstruction in the outflow path of blood leaving the left ventricle through the descending aorta (subvalvular aortic stenosis). (petwave.com)
Supravalvar9
  • Williams syndrome is characterized by dysmorphic facies (100%), cardiovascular disease (most commonly supravalvar aortic stenosis [80%]), mental retardation (75%), a characteristic cognitive profile (90%), and idiopathic hypercalcemia (15%) 2-5 ( Table 1 ). (aappublications.org)
  • 1,2,4 The most common cardiovascular defect is supravalvar aortic stenosis, an often progressive condition that may require surgical repair. (aappublications.org)
  • Shone syndrome describes a combination of 4 congenital heart defects: supravalvar mitral ring, parachute mitral valve, subvalvar aortic stenosis, and aortic coarctation. (rjmatthewsmd.com)
  • Aortic Valve-Sparing Surgical Treatment of Supravalvar Aortic Stenosis in a 65-Year-Old Adult. (medworm.com)
  • Cardiovascular anomalies are the most common and concerning manifestations of WS, with supravalvar aortic stenosis present in up to 70% of patients with WS. (medworm.com)
  • AbstractWilliams syndrome is a genetic disorder associated with various cardiovascular abnormalities, most commonly supravalvar aortic stenosis and peripheral pulmonary stenosis. (medworm.com)
  • The condition was first discovered by Dr. J C P Williams and is also known by the names of Williams-Beuren syndrome, Elfin Facies Syndrome and Supravalvar aortic stenosis syndrome. (steadyhealth.com)
  • 1 2 Supravalvar aortic stenosis is the most common cardiac defect, and peripheral pulmonary stenosis (PPS) is the second most commonly identified lesion. (ahajournals.org)
  • Seven patients had valvar and supravalvar main pulmonary artery stenosis, 18 had supravalvar aortic stenosis, 4 had coarctation, 2 had large membranous ventricular septal defect, 6 had atrial septal defect, and 1 had severe right ventricular (RV) dysfunction. (ahajournals.org)
Bicuspid11
  • Though it was thought earlier that rheumatic fever was the commonest cause of aortic valvular stenosis, current evidences is that stenosis developing in congenital bicuspid aortic valve is the most common cause. (hubpages.com)
  • The commonest causes below the age of 30 years are congenital unicuspid or bicuspid aortic valves. (hubpages.com)
  • Between 30-70 years, bicuspid aortic valves, rheumatic valvulitis and unicuspid valves account for the majority of cases. (hubpages.com)
  • Congenital bicuspid aortic valve occurs in about 2% of the general population. (hubpages.com)
  • However, calcification occurs much later than in the case of congenital bicuspid aortic valve. (hubpages.com)
  • Comparative study of bicuspid vs. tricuspid aortic valve stenosis. (bioportfolio.com)
  • To examine differences and similarities in bicuspid aortic valve (BAV) and tricuspid aortic valve (TAV) stenosis occurring during the same age and whether any differences impact outcomes following aor. (bioportfolio.com)
  • The similar anomaly on the left side is "separate origins of the left anterior descending and left circumflex coronary arteries" occurs in about 1% of people and is more frequent with bicuspid aortic valves . (wikidoc.org)
  • Associations: (1) Bicuspid aortic valve occurs in up to 85% of cases. (bcm.edu)
  • An ejection systolic murmur may be heard in the left upper sternal region, with an ejection click if there is an associated bicuspid aortic valve. (bcm.edu)
  • To observe the clinical outcomes of the different valve sizing strategies treating type-0 Bicuspid Aortic Stenosis (BAS) with self-expandable transcatheter aortic valve implantation (TAVI). (bioportfolio.com)
Subvalvular4
  • A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. (bioportfolio.com)
  • Pulmonic stenosis is classified into valvular, subvalvular (infundibular) and supravalvular based on the location of the stenosis in relation to the pulmonary valve. (wikidoc.org)
  • subvalvular aortic stenosis is the most common type in domestic dogs. (petwave.com)
  • However, most authorities believe that subvalvular aortic stenosis - also called subaortic stenosis or "SAS", does have a strong hereditary component in almost all cases. (petwave.com)
Cardiac7
  • A 32-year-old female was diagnosed with supra-valvular aortic stenosis by transthoracic echocardiography for the evaluation of cardiac murmur with constitutional symptoms. (biomedcentral.com)
  • Case presentation We describe the case of a 46-year-old male with the rare coincidental finding of supravalvular aortic stenosis and coronary vasospasm leading to recurrent pulseless electrical activity cardiac arrest. (elsevierpure.com)
  • Conclusions Coronary vasospasm and supravalvular aortic stenosis are rare but potentially reversible causes of pulseless electrical activity cardiac arrest. (elsevierpure.com)
  • Progressive aortic stenosis leads to cardiac hypertrophy as a compensatory response. (bioportfolio.com)
  • Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body (supravalvular aortic stenosis). (rarediseases.org)
  • In this normal human heart, viewed in attitudinally correct orientation, the subpulmonary infundibulum has been transected, and the pulmonary valve removed, showing the central position of the aortic root within the cardiac short axis. (bmj.com)
  • The validity of that strategy is controversial when the increase in cardiac load is relatively fixed, as in the case of aortic valvular stenosis. (scielo.br)
Obstruction5
  • The presence of a loud systolic ejection murmur and persistent left ventricular hypertrophy led to the diagnosis of severe supravalvular aortic flow obstruction by indirect compression of a large pseudoaneurysm. (ovid.com)
  • Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency. (nih.gov)
  • Narrowing of the aperture to 0.75cm2 or less produces severe obstruction to left ventricular ejection and a pressure gradient across the aortic valve develops which may reach 50 mm to even 200 mmHg. (hubpages.com)
  • Coarctation in the adult is characterized by a short segment abrupt obstruction in the postductal region secondary to localized thickening of the aortic media. (bcm.edu)
  • Sub-infundibular pulmonic stenosis is known as ' double chambered right ventricle' dividing the right ventricle into a high pressure inlet and a low pressure outlet causing a progressive right ventricular outflow tract obstruction . (wikidoc.org)
Insufficiency1
  • There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency. (elsevier.com)
Pulmonary artery stenosis3
  • 10,11 Peripheral pulmonary artery stenosis is often present in infancy and usually improves over time. (aappublications.org)
  • Evaluation by echocardiography in the cardiology clinic revealed mild supravalvular aortic stenosis with pulmonary artery stenosis. (ispub.com)
  • The skin changes are often accompanied by extracutaneous manifestations, including pulmonary emphysema, bladder diverticula, pulmonary artery stenosis and pyloric stenosis. (abcam.com)
Aneurysm3
  • ascending aortic aneurysm. (brainscape.com)
  • The extracellular matrix protein elastin endows the recoil and compliance required for physiologic arterial function, while disruption of function can lead to aberrant vascular smooth muscle cell proliferation manifesting through stenosis, aneurysm, or vessel dissection. (springer.com)
  • Filmed at the 2018 EACTS Annual Meeting in Milan, Italy, Mohamad Bashir moderates a discussion on the importance of valve repair in aortic root aneurysm. (ctsnet.org)
Particularly supravalvular aortic s1
  • Echocardiogram to look for valvular heart disease, particularly supravalvular aortic stenosis. (renalandurologynews.com)
Pulmonic stenosis2
  • It is the most common cause of pulmonic stenosis. (wikidoc.org)
  • There is post stenotic dilatation of the main pulmonary artery (red arrow) from valvular pulmonic stenosis. (learningradiology.com)
Regurgitation1
  • In addition, three thickened aortic valvular cups without limited movement resulting in mild aortic regurgitation were detected. (biomedcentral.com)
Peripheral pulmonary1
  • Background -Experience of balloon dilation of peripheral pulmonary stenosis (PPS) in Williams syndrome (WS) is limited. (ahajournals.org)
Cardiovascular1
  • and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. (aapc.com)
Valvular disease2
Supra-valvular aortic stenosis6
  • Among the vascular involvements of Takayasu arteritis, a supra-valvular aortic stenosis has been reported very rarely. (biomedcentral.com)
  • We report a case of surgically corrected, supra-valvular aortic stenosis caused by Takayasu arteritis. (biomedcentral.com)
  • Under the impression of non-familial sporadic type of supra-valvular aortic stenosis, surgical correction was performed. (biomedcentral.com)
  • Takayasu arteritis should be considered in adult female patients presenting supra-valvular aortic stenosis with constitutional symptoms, even if no typical features of vascular involvement. (biomedcentral.com)
  • Therefore, it can be confused with the non-familial, sporadic type of supra-valvular aortic stenosis. (biomedcentral.com)
  • We report an adult female patient treated initially by surgery (Bentall procedure with aortic root augmentation) under the impression of non-familial, sporadic type of supra-valvular aortic stenosis, who was subsequently diagnosed as TA by a meticulous review of medical records and new vascular presentations. (biomedcentral.com)
Symptomatic3
  • When symptomatic, aortic stenosis can result to dizziness, syncope, angina and congestive heart failure. (naturalcurefor.com)
  • A high platelet reactivity in patients with severe symptomatic Aortic Stenosis (AS) selected for TAVI (Transcatheter aortic valve implantation) procedure has been demonstrated previously, and the use of double antiaggregation therapy (DAPT) with Clopidogrel and Acetylsalicylic acid (ASA) do not achieve consistent and adequate suppression of platelet reactivity. (clinicaltrials.gov)
  • Purpose: To evaluate the safety and efficacy of THV-9300 for patients who have severe symptomatic aortic stenosis attributed to calcification and degeneration of a valve leaflet and for whom undergoing a surgery safely would be difficult. (clinicaltrials.gov)
Artery10
  • Individuals with significant supravalvular AS chronically may develop left ventricular hypertrophy and also are at risk of developing coronary artery stenosis. (wikipedia.org)
  • The exam found residual post-surgical supravalvular aortic stenosis with collaterals (Figure 1), post-surgical stenosis of the pulmonic trunk (Figure 2), non-obstructive coronary artery disease (CAD) without evidence of coronary anomalies (Figure 3), and mild concentric left ventricular hypertrophy with preserved biventricular systolic function (Figure 4). (massgeneral.org)
  • In this study, we present a familial hypercholesterolemia case characterized by xanthomas and a quite early onset diffuse atherosclerosis resulting in supravalvular stenosis and coronary artery disease. (dergisi.org)
  • We hypothesize that Sildenafil will produce a clinically significant decrease in pulmonary artery pressure in patients with severe aortic stenosis. (bioportfolio.com)
  • Stenosis or atresia of the ostium or first few millimeters of the left main coronary artery is one of the rarest of the congenital coronary artery anomalies. (wikidoc.org)
  • Supra-aortic extracranial artery atherosclerotic lesions in patients diagnosed for coronary artery disease: prevalence and predictors. (biomedsearch.com)
  • AIM: To determine the prevalence and predictors of extracranial supra-aortic artery atherosclerotic disease (SAD) in patients with suspected CAD. (biomedsearch.com)
  • METHODS: Supra-aortic artery angiography was performed in 379 consecutive patients aged 64.2 +/- 8.8 years (231 male) referred for coronary angiography. (biomedsearch.com)
  • or =50% within the supra-aortic arteries in 90 patients (23.7% of the whole study group, and 28.7% of CAD patients), including 42 internal carotid artery stenoses in 36 patients, 58 vertebral artery stenoses in 52, and 30 subclavian stenoses in 28 patients. (biomedsearch.com)
  • Three-Patch Aortic Root Reconstruction With Extended Left Main Coronary Artery Patch Augmentation in Neonates and Infants. (childrenshospital.org)
Subaortic1
  • Otherwise, there is no known way to prevent a dog from developing subaortic stenosis. (petwave.com)
Familial3
  • Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic assessment. (ahajournals.org)
  • The lesions of the aortic root, which are supravalvular aortic stenosis and coronary ostial stenosis, in familial hypercholesterolemia were studied using two-dimensional echocardiography. (ahajournals.org)
  • Aortic valve stenosis (AVS) affects a significant percentage of our elderly population and younger subjects with familial hypercholesterolemia. (bioportfolio.com)
Diffuse1
  • To determine long-term outcome after operation for supravalvular aortic stenosis, we reviewed the case histories of 80 patients who had repair of the localized form (group A) (n = 67) or diffuse form (group B) (n = 13) from 1956 to 1992, including 31 patients with the Williams-Beuren syndrome. (elsevier.com)
Abnormalities1
  • Animal reproduction studies have shown fetal abnormalities in several species associated with hypervitaminosis D. These are similar to the supravalvular aortic stenosis syndrome described in infants by Black in England (1963). (nih.gov)
Ventricular4
  • The aortic valve, and its supporting ventricular structures, form the centrepiece of the heart. (bmj.com)
  • Note also the thin areas of aortic wall which separate the left ventricular cavity from the pericardial space just below the level of the sinutubular junction. (bmj.com)
  • To assess the effects of lisinopril (L) on mortality (M) rate and congestive heart failure (CHF), and the characteristics of geometrical myocardial remodeling and left ventricular function in rats with supravalvular aortic stenosis (SAS). (scielo.br)
  • 20% in ratio of right ventricular (RV) to aortic (Ao) systolic pressure. (ahajournals.org)
Dilation1
  • NGS Aortic Dysfunction or Dilation and Related Disorders Panel. (mendelian.co)
Defect1
  • The authors describe an open surgical repair for a patient who presented with an aortic root fistula from a device previously inserted to close an atrial septal defect. (ctsnet.org)
Mental retardation1
  • also may be associated with supravalvular aortic stenosis, elfin facies, and mental retardation. (drugs.com)
Valve Implantation2
  • The aim of this study is to assess the possible neuroprotective effects of cooling (targeted cooling of the brain to 33°C) during Transcatheter Aortic Valve Implantation (TAVI) procedures. (clinicaltrials.gov)
  • The FinnValve investigators planned a nationwide registry to investigate the early and late outcome of transcatheter aortic valve implantation (TAVI) compared to surgical aortic valve repl. (bioportfolio.com)
Narrowing3
  • Oblique maximum intensity projection image shows a 57% area luminal narrowing supravalvular aortic stenosis (green arrow) and collateral vessels secondary to supravalvular aortic stenosis (red arrow). (massgeneral.org)
  • This results in varying degrees of narrowing of the aortic valve lumen. (hubpages.com)
  • Narrowing of blood vessels leading to conditions like supravalvular aortic stenosis and pulmonary stenosis. (steadyhealth.com)
Patients with aortic3
  • According to a prospective, single-center, nonrandomized study of 25 patients, percutaneous implantation of an aortic valve prosthesis in high risk patients with aortic stenosis leads to marked hemodynamic and clinical improvement when successfully completed. (naturalcurefor.com)
  • Pulmonary hypertension is common in patients with aortic stenosis and is associated with worse operative and long-term outcomes. (bioportfolio.com)
  • heart failure , but this has not been tested in patients with aortic stenosis. (bioportfolio.com)
Intervention2
  • Timely intervention in patients with valvular stenosis has good outcomes and excellent prognosis. (wikidoc.org)
  • Aortic stenosis is the most common heart valve disease requiring intervention in high income countries. (bioportfolio.com)
Williams3
  • Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. (wikipedia.org)
  • Human genetic diseases under study include supravalvular aortic stenosis, Williams syndrome and cutis laxa. (pitt.edu)
  • The circulatory disorders, specially the supravalvular aortic stenosis, associated with Williams Syndrome are particularly attributed to the loss of ELN gene. (steadyhealth.com)
Surgical aortic valve repla1
  • It is known that female sex is associated with poorer outcomes after surgical aortic valve replacement. (bioportfolio.com)
Arch2
  • Alsaied T, Friedman K, Masci M, Hoganson DM, Baird CW, Geva T. Type B Interrupted Right Aortic Arch: Diagnostic and Surgical Approaches. (childrenshospital.org)
  • Surgical Considerations in Interrupted Aortic Arch. (childrenshospital.org)
Tetralogy1
  • Infundibular stenosis is a feature of tetralogy of Fallot . (wikidoc.org)
Tricuspid4
  • This results from the degeneration and calcification of the tricuspid aortic valve. (hubpages.com)
  • This is because the aortic and mitral valvar orifices are fitted alongside each other within the circular short axis profile of the left ventricle, as compared to the tricuspid and pulmonary valves which occupy opposite ends of the banana shaped right ventricle (fig 2 ). (bmj.com)
  • Note that the aortic root is deeply wedged between the orifices of the mitral and tricuspid valves. (bmj.com)
  • The majority of native valve pathology in adults involves the mitral, aortic, and occasionally tricuspid valv. (bioportfolio.com)
Transcatheter aortic valve1
Pathological constriction1
  • A pathological constriction occurring in the region above the AORTIC VALVE. (curehunter.com)
Children and young adults with c1
  • Outcomes after mechanical aortic valve replacement in children and young adults with congenital heart disease. (childrenshospital.org)
Syndrome2
  • Ge X et al (2012) Modeling supravalvular aortic stenosis syndrome using human induced pluripotent stem cells. (springer.com)
  • Using remodeling aortic and mitral annuloplasty rings, a double valve repair was accomplished in a young patient with Marfan syndrome. (ctsnet.org)
Autosomal1
  • Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. (biomedcentral.com)
Outflow1
  • Forming the outflow tract from the left ventricle, the aortic root functions as the supporting structure for the aortic valve. (bmj.com)