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.ElastinPulmonary 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 StenosisMitral 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.

*  Rapitful Shqip: Supravalvular stenosis
Aortic and mitral valve disease (1) Aortic coarctation (2) Aortic regurgitation (2) Aortic sclerosis (1) Aortic stenosis (6) ... Showing posts with label Supravalvular stenosis. Show all posts Showing posts with label Supravalvular stenosis. Show all posts ... What are the genetics of supravalvular stenosis ? Studies suggest that mutation in the elastin gene causes supravalvular ... Supravalvular stenosis (1) Surgery (1) Syfyri (1) Syndrome X (1) Syrgjyn vdekur (2) Syri (8) Syri i trete (1) Systemic ...
  http://rapitful.blogspot.com/search/label/Supravalvular%20stenosis
*  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 ...
  http://www.stlouischildrens.org/diseases-conditions/supravalvular-aortic-stenosis
*  Yibing Qyang
Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. Circulation. 2012 Oct 2; 2012 Aug 22 ... Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. J Exp Med. 2016 Mar 7; 2016 Feb 8. PMID: ...
  http://ycvrc.yale.edu/facultylabs/qyang.aspx
*  Williams Syndrome - AAPOS
A cardiovascular problem called Supravalvular Aortic Stenosis (SVAS) can be associated with Williams Syndrome. SVAS is the ...
  https://aapos.org/terms/conditions/109
*  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 ...
  http://www.curehunter.com/public/keywordSummaryD021921-Supravalvular-Aortic-Stenosis-Aortic-Supravalvular-Stenosis.do
*  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 - Wikipedia
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often ... 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 ... shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis ...
  https://en.wikipedia.org/wiki/Supravalvular_aortic_stenosis
*  Determination of the Acute Effects of Aortic Stenosis on Coronary Artery Haemodynamics - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Aortic Valve Stenosis. Pathological Conditions, Anatomical. Heart Valve Diseases. Heart Diseases. Cardiovascular Diseases. ... Determination of the Acute Effects of Aortic Stenosis on Coronary Artery Haemodynamics. This study is currently recruiting ... Determination of the Acute Effects of Aortic Stenosis on Coronary Artery Haemodynamics. ...
  https://clinicaltrials.gov/ct2/show/NCT01118442
*  Use of Cardiac-MRI to Predict Results for People With Severe Aortic Stenosis - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Severe aortic stenosis defined as aortic valve area of less than 1 cm(2) or index area of 0.6 cm(2)/m(2) by echocardiography. ... Transcatheter aortic-valve replacement for inoperable severe aortic stenosis. N Engl J Med. 2012 May 3;366(18):1696-704. doi: ... Use of Cardiac-MRI to Predict Results for People With Severe Aortic Stenosis. The safety and scientific validity of this study ...
  https://clinicaltrials.gov/ct2/show/NCT01905852?term=Aortic+Valve+Stenosis&lup_s=07%2F10%2F2013&lup_d=14&show_rss=Y&sel_rss=mod14
*  Safety and Efficacy Study of the Medtronic CoreValve® System in the Treatment of Severe, Symptomatic Aortic Stenosis in...
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Subject has severe aortic stenosis presenting with;. *Critical aortic valve area defined as an initial aortic valve area of ≤ ... Severe Aortic Stenosis Device: Medtronic CoreValve® System Transcatheter Aortic Valve Implantation (TAVI) Procedure: Surgical ... Symptomatic Aortic Stenosis in Intermediate Risk Subjects Who Need Aortic Valve Replacement (SURTAVI). (SURTAVI). The safety ...
  https://clinicaltrials.gov/ct2/show/study/NCT01586910?term=Aortic+Valve+Stenosis&lup_s=08%2F04%2F2013&lup_d=14&show_rss=Y&sel_rss=mod14&show_locs=Y
*  A Comparison of Advanced Imaging Techniques in Aortic Stenosis - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Patients with symptomatic severe aortic stenosis (AS) as per ESC guidelines, requiring aortic valve replacement. ... Aortic Stenosis Radiation: Cardiac I123-MIBG Scintigraphy Other: Cardiac MRI Other: Stress and rest Echocardiogram Other: High ... In patients with aortic stenosis the valve through which blood is pumped out of the main heart chamber is narrowed. This ...
  https://clinicaltrials.gov/ct2/show/NCT01775215
*  Preoperative Assessment of Aortic Valve Stenosis and Coronary Artery Disease - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis MedlinePlus related topics: CT Scans Coronary Artery ... The severity of the aortic valve stenosis is being assessed by DSCT and TTE. Significant coronary artery stenosis and its ... Preoperative Assessment of Aortic Valve Stenosis and Coronary Artery Disease. The safety and scientific validity of this study ... Aortic Valve Stenosis. Heart Diseases. Cardiovascular Diseases. Arteriosclerosis. Arterial Occlusive Diseases. Vascular ...
  https://clinicaltrials.gov/ct2/show/NCT00767013?recr=Open&cond=%22Aortic+Valve+Stenosis%22&rank=5
*  Safety and Efficacy Study of the Medtronic CoreValve® System in the Treatment of Symptomatic Severe Aortic Stenosis in High...
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+)). ... Severe Aortic Stenosis Device: Medtronic CoreValve® System Transcatheter Aortic Valve Implantation (TAVI) Device: Surgical ... Transcatheter aortic valve replacement using a self-expanding bioprosthesis in patients with severe aortic stenosis at extreme ...
  https://clinicaltrials.gov/ct2/show/study/NCT01240902?view=record
*  Statin Therapy in Asymptomatic Aortic Stenosis - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis MedlinePlus related topics: Statins ... statin therapy on the progression of calcified aortic stenosis in patients with asymptomatic mild to moderate aortic stenosis. ... Statin Therapy in Asymptomatic Aortic Stenosis. The safety and scientific validity of this study is the responsibility of the ... Progression of calcified aortic stenosis measured by: [ Time Frame: 24 months ]. *Transthoracic echocardiography (P max/ mean; ...
  https://clinicaltrials.gov/ct2/show/NCT00176410?recr=Open&cond=%22Aortic+Valve+Stenosis%22&rank=17
*  Effect of Bisoprolol on Progression of Aortic Stenosis - Full Text View - ClinicalTrials.gov
Genetics Home Reference related topics: Supravalvular aortic stenosis Drug Information available for: Bisoprolol Bisoprolol ... Mild to moderate aortic stenosis defined by peak velocity of aortic jet between 2.0 and 3.5 m/sec ... of progression of aortic stenosis by modifying hemodynamic factors favorably in patients with mild to moderate aortic stenosis. ... hypertension and rapid heart rate might contribute to progression of aortic stenosis. Peak aortic jet velocity is known to be ...
  https://clinicaltrials.gov/show/NCT01579058
*  Surgical Treatment of Aortic Stenosis With a Next Generation, Rapid Deployment Surgical Aortic Valve - Full Text View -...
Genetics Home Reference related topics: supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Aortic Valve Stenosis Aortic Valve Stenosis With Insufficiency Regurgitation, Aortic Valve Aortic Valve Incompetence Device: ... Has aortic stenosis or stenosis-insufficiency of an aortic valve requiring a planned replace-ment as indicated in the ... Surgical Treatment of Aortic Stenosis With a Next Generation, Rapid Deployment Surgical Aortic Valve (TRANSFORM™). This study ...
  https://clinicaltrials.gov/ct2/show/NCT01700439?recr=Open&cond=%22Aortic+Valve+Stenosis%22&rank=2
*  Metabolic Determinants of the Progression of Aortic Stenosis - Full Text View - ClinicalTrials.gov
Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: Aortic Valve Stenosis Abdominal Obesity ... Aortic stenosis related events [ Time Frame: From date of baseline until the date of first documented aortic stenosis related ... Presence of aortic stenosis defined as peak aortic jet velocity ≥2.5 m/s ... Annualized progression rate of aortic stenosis hemodynamic severity calculate as the difference between peak aortic jet ...
  https://clinicaltrials.gov/ct2/show/NCT01679431?term=%22Coronary+Artery+Disease%22&lup_s=04%2F09%2F2013&lup_d=14&show_rss=Y&sel_rss=mod14
*  A Comparison of Transcatheter Heart Valves in High Risk Patients With Severe Aortic Stenosis: The CHOICE Trial - Full Text View...
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 Engl J Med. 2010 Oct 21; ... Severe aortic valve stenosis defined as aortic valve area (AVA) ≤ 1cm2 or 0.6 cm2/m2 ... Long-term outcomes after transcatheter aortic valve implantation in high-risk patients with severe aortic stenosis: the U.K. ...
  https://clinicaltrials.gov/ct2/show/NCT01645202
*  Multicenter Prospective Study of Low-Flow Low-Gradient Aortic Stenosis (TOPAS Study) - Full Text View - ClinicalTrials.gov
Trial record 18 of 574 for: 'supravalvular aortic stenosis' OR 'Stenosis, Aortic' OR 'Aortic Valve Stenosis' ... low-gradient aortic stenosis: results from the multicenter True or Pseudo-Severe Aortic Stenosis study. Circ Cardiovasc Imaging ... low-gradient aortic stenosis: the multicenter TOPAS (Truly or Pseudo-Severe Aortic Stenosis) study. Circulation. 2006 Feb 7;113 ... low-gradient aortic stenosis: differences between true and pseudo-severe aortic stenosis. Results from the multicentre TOPAS ( ...
  https://clinicaltrials.gov/ct2/show/NCT01835028?cond=%22supravalvular+aortic+stenosis%22+OR+%22Stenosis%2C+Aortic%22+OR+%22Aortic+Valve+Stenosis%22&rank=18
*  Percutaneous Aortic Valve 18F System for the Treatment of Patients With Severe Aortic Stenosis - Full Text View -...
Genetics Home Reference related topics: Supravalvular aortic stenosis Genetic and Rare Diseases Information Center resources: ... Percutaneous Aortic Valve 18F System for the Treatment of Patients With Severe Aortic Stenosis. The safety and scientific ... Device: Replacement of the Aortic Stenotic Valve Treatment for patients with Severe Aortic Stenosis. ... Severe aortic valve stenosis determined by echocardiogram and Doppler, defined as: mean gradient ,40 mmHg or peak jet velocity ...
  https://clinicaltrials.gov/ct2/show/NCT01475799?recr=Open&cond=%22Aortic+Valve+Stenosis%22&rank=12
*  Systemic disease and heart Flashcards by Seyr Reyd | Brainscape
Mitral valve prolapse; ar; aortic dissection. Look for long fingers and a high-arched palate. ... Conduction defects; pericarditis; lv dysfunction; aortic regurgitation; coronary arteritis. Look for arthritis signs, ...
  https://www.brainscape.com/flashcards/systemic-disease-and-heart-1438146/packs/1767002
*  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 ...
  http://pediatrics.aappublications.org/content/107/5/1192.full
*  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
*  Effect of Steroids on Cerebral Inflammation and Neuronal Damage After Surgical Aortic Valve Replacement - Full Text View -...
Genetics Home Reference related topics: Supravalvular aortic stenosis Drug Information available for: Prednisolone Prednisolone ... Aortic Valve Stenosis. Pathologic Processes. Heart Valve Diseases. Heart Diseases. Cardiovascular Diseases. Ventricular Outflow ... Effect of Steroids on Cerebral Inflammation and Neuronal Damage After Surgical Aortic Valve Replacement. The safety and ... In a previous study we found that patients undergoing aortic valve surgery had elevated cerebrospinal inflammatory markers. In ...
  https://clinicaltrials.gov/ct2/show/NCT01755338
*  Dr. Lloyd Lense, MD - East Setauket, NY - Cardiology & Internal Medicine | Healthgrades.com
Aortic Dissection. *Aortic Ectasia. *Aortic Stenosis. *Aortic Valve Disease. *Aortic Valve Regurgitation ...
  https://www.healthgrades.com/physician/dr-lloyd-lense-236sj

Afterload: Afterload is the pressure in the wall of the left ventricle during ejection. In other words, it is the end load against which the heart contracts to eject blood.Austin B. Williams: Austin Beatty Williams (October 17, 1919 – October 27, 1999) was an American carcinologist, "the acknowledged expert on and leader in studies of the systematics of eastern American decapod crustaceans".}}Elastin: Elastin is a highly elastic protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched.Stenosis of pulmonary arteryAortic valve replacementTetrahydrozolineCarotid artery stenosisRobot-assisted double heart valve replacement: The first robotic-assisted double heart valve replacement was carried out in the Chennai region of India at Chettinad Hospital. Considered a rare form of surgery, this is the first instance of such a procedure using robotic surgery.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Spinal stenosis: Spinal stenosis is an abnormal narrowing (stenosis) of the spinal canal that may occur in any of the regions of the spine. This narrowing causes a restriction to the spinal canal, resulting in a neurological deficit.Pulmonary artery sling: Pulmonary artery sling is a rare condition in which the left pulmonary artery anomalously originates from a normally positioned right pulmonary artery. The left pulmonary artery then progresses posteriorly over the right main bronchus near its origin from the trachea, traverses between the trachea and the esophagus and enters the left hilum.Commissurotomy: A commissurotomy is a surgical incision of a commissure in the body, as one made in the heart at the edges of the commissure formed by cardiac valves, or one made in the brain to treat certain psychiatric disorders.Aortic insufficiencyCalcinosis cutisBalloon catheter: A balloon catheter is a type of "soft" catheter with an inflatable "balloon" at its tip which is used during a catheterization procedure to enlarge a narrow opening or passage within the body. The deflated balloon catheter is positioned, then inflated to perform the necessary procedure, and deflated again in order to be removed.Pyloric stenosis

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

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)

(2/33) Hypoplastic left heart syndrome.

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)

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

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)

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

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)

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

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)

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

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)

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

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)

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

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)



  • surgical
  • Aortic stenosis (AS) is a gradually progressive disease, characterized by an increase in calcium deposition leading to progressive narrowing of the aortic valve (AV). There are currently no effective medical treatment to halt the disease process and surgical valve replacement remains the only proven therapy when the valve becomes severely stenotic. (clinicaltrials.gov)