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UnknownInfective endarteritis in a case of supravalvular aortic stenosis.
Supravalvular aortic stenosis is the rarest form of congenital left ventricular outflow tract obstruction. It can be associated with Williams syndrome or it may be an isolated anomaly. Although infective endocarditis is common in valvular aortic stenosis, in supravalvular aortic stenosis infective e...
S-EPMC6280007 | biostudies-literature
UnknownNovel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic steno...
S-EPMC5843366 | biostudies-literature
UnknownCoronary artery lesions are associated with adverse cardiac events in children undergoing supravalvular aortic stenosis repair.

Objectives

The aim of this study was to identify the prevalence and anatomic characteristics of coronary artery lesions and their associated postoperative risk in patients undergoing supravalvular aortic stenosis repair.

Methods

The association between structural risk factors, postope...
S-EPMC10948283 | biostudies-literature
UnknownCleft Anterior Mitral Leaflet with Supravalvular Aortic Stenosis a Rare Association.
A 20 year old female was referred to us for evaluation of effort dyspnoea of NYHA class II with feeble left common carotid, left brachial and left radial artery as compared to other sides. Detail evaluation with two dimensional (2D) transthoracic echocardiographic, 2D transesophageal echocardiograph...
S-EPMC4738496 | biostudies-literature
UnknownAortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis.
This case report describes the clinical presentation, the necropsy findings, and genetic results of a 13-year-old Warmblood mare presented with colic and a bilaterally loud, holosystolic murmur. Echocardiographic examination revealed the presence of a thoracic aortic aneurysm, an aortic pseudoaneury...
S-EPMC7517844 | biostudies-literature
UnknownPatch aortoplasty for supravalvular aortic stenosis in an adult patient: A case report.

Introduction

Supravalvular aortic stenosis (SVAS) is an uncommon congenital abnormality that presents with intimal thickening of the aortic media at the sinotubular junction. Given the congenital nature of the disease, patients usually become symptomatic in childhood.

Presentation of case...

S-EPMC10943428 | biostudies-literature
UnknownIdentification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.
Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and...
S-EPMC9742416 | biostudies-literature
UnknownNovel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.

Background

Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. Th...
S-EPMC6825854 | biostudies-literature
UnknownAortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry.

Background

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease.

Objectives

The objective of this study was to assess the prevalence, clinical p...
S-EPMC12860983 | biostudies-literature
UnknownJAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency.
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS), atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic lamellae structure and excessive smooth muscle cells (SMCs). However, the relationship between these pathological features is p...
S-EPMC8884911 | biostudies-literature
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