Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
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.
Pulmonary Valve Stenosis
Aortic Valve
Discrete Subaortic Stenosis
Autografts
Heart Valve Prosthesis Implantation
Aortic Stenosis, Subvalvular
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
Cardiac Catheterization
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
Aortic Valve Insufficiency
Echocardiography
Catheterization
Constriction, Pathologic
Pyloric Stenosis
Severity of Illness Index
Blood Vessels
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.
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.
Publishing
MEDLINE
Serial Publications
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.
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 | St. Louis Childrens Hospital
Supravalvular aortic stenosis - NORD (National Organization for Rare Disorders)
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis<...
Surgical result of supravalvular aortic stenosis (authors transl)]. - Semantic Scholar
Difference between revisions of 2011 Group Project 9 - Embryology
retinal vessel tortuosity | Hereditary Ocular Diseases
Williams Syndrome - AAPOS
Difference between revisions of 2011 Group Project 9 - Embryology
Patient Stories | UCSF Cardiac Surgery
Williams Syndrome | Profiles RNS
Robert Goldstein M.D.
Yibing Qyang
Zsolt Urban<...
Rapitful Shqip: Supravalvular stenosis
Heart failure after long-term supravalvular aortic constriction in rats
Wallman Wanderings ~*~ Following Jesus Wherever He Leads: Heart Talk
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome - Full Text View - ClinicalTrials.gov
Williams syndrome - Wikipedia
Supravalvar AS vs valvar and subvalvular AS
Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome | Circulation
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.
Matrix Gla protein
Animal Models of Williams Syndrome | Williams Syndrome Association
Tissue expression of ELN - Staining in soft tissue 2 - The Human Protein Atlas
Tissue expression of ELN - Staining in ovary - The Human Protein Atlas
What is Aortic Stenosis in Pugs
Aortic Stenosis -- Child | Doctors Hospital
Aortic Stenosis -- Adult | Coliseum Health System
Common Features of Williams Syndrome | Williams Syndrome Association
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Chromosomal: Williams Syndrome: Organizations
Gene Expression: Williams syndrome in <i>The New York Times...
Williams syndrome - Better Health Channel
A Peeko At Niko: Williams Syndrome: August 2005
A Peeko At Niko: Williams Syndrome: 2005
Nationwide Clinical Consortium and Comprehensive Research Network for Williams Syndrome Established
Pens - Williams Syndrome Foundation
Download Williams Syndrome
High Doses of Zinc in Williams Syndrome -
InfantRisk Forums
Fundraiser for Samantha Devary by Kelsey Rae Braaten : Westons Williams Syndrome story
نشانگان ویلیامز - ویکیپدیا، دانشنامهٔ آزاد
Aortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional Edition
Aortic Stenosis - Cardiovascular Disorders - Merck Manuals Professional Edition
PLOS Computational Biology: Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome
Aortic Valve Stenosis
- Aortic Stenosis
Summary Report | CureHunter
Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome
Anthrozoos - Virginia Commonwealth University
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. - PubMed - NCBI
Role of the Renal Nerves in Renin Release during Suprarenal Aortic Stenosis in Cats | Clinical Science | Portland Press
WHATS UP DOC? Williams syndrome - Entertainment & Life - The Swampscott Reporter - Swampscott, MA
WHATS UP DOC? Williams syndrome - Entertainment & Life - Wicked Local West Roxbury - West Roxbury, MA
WHATS UP DOC? Williams syndrome - Entertainment & Life - Somerville Journal - Somerville, MA
WHATS UP DOC? Williams syndrome - Entertainment & Life - Holbrook Sun - Holbrook, MA
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes<...
Aortic Stenosis Symptoms | What is Aortic Stenosis | LCC
Neurologia Dziecięca Nr 36 Vol. 18/2009
RRH: Rural and Remote Health article: 2284 - Is there a rural gradient in the diagnosis of aortic stenosis? An analysis of a...
Aortic Stenosis Treatment Guidelines
Assessment of left ventricle function in patients with symptomatic and asymptomatic aortic stenosis by 2-dimensional speckle...
Aortic Stenosis: What Your Symptoms Mean
Aortic Stenosis - Circulatory System - Merck Veterinary Manual
Need help coding Williams Syndrome
Williams syndrome associated Celiac Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Download Williams Syndrome
OpenLab ELN v4.1 | Scientific Computing World
Supravalvular 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; ...
Supravalvular 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 ...
Supravalvular aortic stenosis - NORD (National Organization for Rare Disorders)
Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing ( ... NIH GARD Information: Supravalvular aortic stenosis. This information is provided by the National Institutes of Health (NIH) ... Home / For Patients and Families / Rare Disease Information / NIH GARD Report: Supravalvular aortic stenosis ... stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of ...
Supravalvular 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 ...
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 ...
Supravalvular 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 ...
Presentation 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 ...
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", ...
Abstract | 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 ...
Clinical 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. ...
Supravalvular-aortic-stenosis: Causes & Reasons - Symptoma
Possible causes include Aortic Valve Disorder. Check the full list of possible causes and conditions now! Talk to our Chatbot ... Aortic stenosis (disorder), Aortic valve--Stenosis, AORTIC STENOSIS, Aortic stenosis, Aortic valve stenosis, AS - Aortic ... Aortic stenosis (disorder), Aortic valve--Stenosis, AORTIC STENOSIS, Aortic stenosis, Aortic valve stenosis, AS - Aortic ... Aortic stenosis (disorder), Aortic valve--Stenosis, AORTIC STENOSIS, Aortic stenosis, Aortic valve stenosis, AS - Aortic ...
SUPRAVALVULAR 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. ...
Supravalvular aortic stenosis Archives - Amsterdam UMC Genome Diagnostics
Tailored stent treatment for severe supravalvular aortic stenosis | accedaCRIS
Natural 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. ...
the 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 ...
Elastin: mutational spectrum in supravalvular aortic stenosis<...
Elastin: mutational spectrum in supravalvular aortic stenosis. K. Metcalfe, A.K. Rucka, L. Smoot, G. Hofstadler, G. Tuzler, ... title = "Elastin: mutational spectrum in supravalvular aortic stenosis",. author = "K. Metcalfe and A.K. Rucka and L. Smoot and ... Elastin: mutational spectrum in supravalvular aortic stenosis. / Metcalfe, K.; Rucka, A.K.; Smoot, L.; Hofstadler, G.; Tuzler, ... Elastin: mutational spectrum in supravalvular aortic stenosis. European Journal of Human Genetics. 2000;8(12):955-963. ...
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 ...
Dr. Robert Hanfland MD
Surgical 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 ...
Supravalvular 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 ( ...
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 ...
60 seconds to diagnosis final
Health 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 ...
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. ...
Similar 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 ...
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. ...
Platelet 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: ...
Portico 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 ...
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. ...
Left ventricle2
- The mother had an aortic cardiac murmur, without hemo-dynamic repercussions and the children had almost identical clinical findings, significant supravalvular aortic stenosis, left ventricle intracavitary stenosis and multiple peripheral pulmonary stenosis but with no other clinical manifestations of Williams-Beuren syndrome, except, perhaps, a deep, metallic voice. (paedcro.com)
- This is a malformation of the aortic valve that progresses over time and obstructs blood flow out of the left ventricle. (vallhebron.com)
Regurgitation1
- His top areas of expertise are Aortic Valve Stenosis, Mitral Valve Regurgitation, Pediatric Myocarditis, and Necrosis. (medifind.com)
Examination1
- When going through the references on genetic examination of supravalvular aortic stenosis, Williams-Beuren syndrome and some other conditions that could not be placed in any of these two terminal categories because of the various phenotype characteristics, we found that such a result has not yet been published. (paedcro.com)
Obstruction1
- Aortic stenosis is often associated with more than one kind of obstruction, such as mitral valve stenosis, coarctation of the aorta, and supravalvular aortic stenosis. (vallhebron.com)
Treatment1
- Mild or moderate stenosis: conservative treatment will be carried out. (vallhebron.com)