Results 251 to 260 of about 58,889 (281)

Familial supravalvular aortic stenosis

The Journal of Pediatrics, 1968
Supravalvular aortic stenosis of the familial type has been found in a mother and four of her five children. Diagnosis was established by heart catheterization and angiocardiography in four cases and necropsy in one. Twenty-five members of the family were examined by the authors. Although a familial metabolic defect is suspected, no excessive intake of
Carolyn M. McCue, Louise W. Robertson, Thomas J. Spicuzza, H. Page Mauck   +3 more
openaire   +3 more sources

De Novo Elastin Assembly Alleviates Development of Supravalvular Aortic Stenosis—Brief Report

Arteriosclerosis, Thrombosis and Vascular Biology
BACKGROUND: A series of incurable cardiovascular disorders arise due to improper formation of elastin during development. Supravalvular aortic stenosis (SVAS), resulting from a haploinsufficiency of ELN, is caused by improper stress sensing by medial ...
Matthew W. Ellis, Muhammad Riaz, Yan Huang, Christopher W. Anderson, Marie Hoareau, Xin Li, Hangqi Luo, Seoyeon Lee, Jinkyu Park, Jiesi Luo, L. Batty, Qunhua Huang, Colleen A. Lopez, Dieter P Reinhardt, G. Tellides, Y. Qyang   +15 more
semanticscholar   +1 more source

Familial Supravalvular Aortic Stenosis

Archives of Pediatrics & Adolescent Medicine, 1964
The modern techniques of the cardiology laboratory have resulted in marked improvement in diagnostic ability with concomitant refinement in diagnostic criteria. 1-3 In aortic stenosis, these advances now permit precise differentiation into valvular, subvalvular, and supravalvular lesions. 4,5 Congenital supravalvular aortic stenosis, apparently first
Belle Jacobson, Arrigo Boito, Robert Eisenberg, Dennison Young   +3 more
openaire   +3 more sources

Supravalvular Aortic Stenosis in Aortic Dissection

The American Journal of Cardiology, 1998
Supravalvular aortic stenosis is a rare complication of aortic dissection. We report on echocardiographic and magnetic resonance observations in 2 cases of aortic dissection with false lumen thrombosis of the ascending aorta and severe narrowing of the true lumen.
Joaquín Ferreirós, Ramiro Méndez, Mario Baquero, Isidre Vilacosta, Catherine Graupner, Elena Batlle, Walter Stoermann, José Alberto San Román, Paloma Aragoncillo   +8 more
openaire   +3 more sources

Abstract 15361: Comparison of Cardiovascular Outcomes of Supravalvar Aortic Stenosis Patients With Williams Syndrome and Non-williams Supravalvular Aortic Stenosis

Circulation, 2020
Introduction: Cardiovascular outcomes in Williams syndrome (WS) with supravalvar aortic stenosis (SVAS) compared to those with non-Williams SVAS (NW-SVAS) have not been well-described in literature.
D. Shahbah, Justin D Weigand, Benjamin Jacob, Icadal Essandro, Taylor Beecroft, Sara Stephen, Ashley Keyes, Gabrielle N Spurzem, M. Webb, S. Morris   +9 more
semanticscholar   +1 more source

[Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
OBJECTIVE To explore the genetic basis for a child with supravalvular aortic stenosis. METHODS The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation ...
Dong Wu, Mengting Zhang, Yue Gao, X. Huo, Hai Xiao, Qian Zhang, Bing Kang, Xin Wang, S. Liao   +8 more
semanticscholar   +1 more source

Pathogenesis of the supravalvular aortic stenosis syndrome

The Journal of Pediatrics, 1967
Experiences with 15 cases of the syndrome of supravalvular aortic stenosis are described. Clinical and epidemiologic relationships between the syndrome and infantile hypercalcemia suggest the existence of a common prenatal cause for both disorders.
Sidney Levin, Asuquo U. Antia, Robert E. Cooke, Richard D. Rowe, Elaine L. Pitt, Ole E. Ottesen, Hobart E. Wiltse   +6 more
openaire   +2 more sources

Supravalvular Aortic Stenosis

2014
Supravalvular aortic stenosis (sup AS) is the least common type of congenital left ventricular outflow tract (LVOT) obstruction. In the most common type of sup AS, there is a fixed aortic narrowing originating from just above the sinus of Valsalva which extends along a variable length of the aorta (hourglass type); the membranous type is the result of ...
Anita Sadeghpour, Azin Alizadehasl
openaire   +2 more sources

“EARLIER THE BETTER” SUPRAVALVULAR AORTIC STENOSIS IN FAMILIAL HYPERCHOLESTEROLEMIA

International journal of scientific research
Familial Hypercholesterolemia is a monogenic disorder caused by mutation in LDL receptor gene or gain of function mutation in PCSK9 (coded by NARC1 gene) or mutation of apoB gene. This may result in early coronary atherosclerosis and sudden cardiac death.
Surendran Sg, Thanmayee Reddy Baddepudi, Jayakumar Kt, J. Kumar, Sreevinishaa Ravichandran   +4 more
semanticscholar   +1 more source

Supravalvular aortic stenosis repair in a 3-year-old child with Williams syndrome using an interdigitating slide aortoplasty.

Multimedia Manual of Cardio-Thoracic Surgery
Several techniques for the surgical correction of congenital supravalvular aortic stenosis have been devised. We describe the step-by-step surgical approach of a slide aortoplasty to correct localized supravalvular aortic stenosis in a 3-year-old child ...
M. Notenboom, Lennie van Osch-Gevers, Pieter Van de Woestijne, Yannick J H J Taverne   +3 more
semanticscholar   +1 more source