Results 61 to 70 of about 4,510 (231)

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Frontiers in Genetics, 2022
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.
Jianrong Zhou, Jianrong Zhou, Yueheng Wu, Yueheng Wu, Xiaoli Xu, Yong Zhang, Xiong Zhang, Haisheng Chen, Jian Zhuang, Jian Zhuang, Jimei Chen, Jimei Chen, Yun Teng, Yun Teng   +13 more
doaj   +1 more source

Classical supravalvar aortic stenosis and peripheral pulmonary stenosis [PDF]

, 2014
Supravalvar aortic stenosis as well as peripheral pulmonary stenosis are rare forms of congenital heart disease, which occur, however, relatively frequently in association.
Gupta, S.K., Kahr, P.C., Kothari, Shyam S., Ramakrishnan, S.   +3 more
core   +1 more source

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]

, 2018
Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M., Bouma, B.J. (Berto J.), Cozijnsen, L. (Luc), Duijnhouwer, A.L. (Anthonie L.), Hilhorst-Hofstee, Y. (Yvonne), Kempers, M.J.E. (Marlies), Kerstjens-Frederikse, W.S. (Wilhelmina), Lambermon, E. (Eric), Loeys, B.L. (Bart), Post, J. (Johan), Roos-Hesselink, J.W. (Jolien), van Brakel, T.J. (Thomas J.), van de Laar, I.M.B.H. (Ingrid M.B.H.), Verhagen, J.M.A. (Judith), Wessels, M.W. (Marja)   +14 more
core   +1 more source

Echocardiographic Detection of Supravalvular Aortic Stenosis [PDF]

Circulation, 1974
The echocardiographic features of supravalvular aortic stenosis of the segmental or hourglass variety is described for the first time. Utilizing a strip recorder and an M mode or sector scan the diameter of the aortic lumen is demonstrated to narrow at the stenotic area just distal to the aortic valve.
Joseph P. Murgo, Dudley Goulden, Bruce W. Usher   +2 more
openaire   +3 more sources

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing   +12 more
wiley   +1 more source

Postcardiotomy Mechanical Circulatory Support in Two Infants with Williams’ Syndrome

Case Reports in Surgery, 2014
Supravalvar aortic stenosis (SVAS) in patients with Williams’ syndrome is often accompanied by coronary, pulmonary, and even myocardial lesions and therefore associated with increased perioperative morbidity and mortality.
Constantinos A. Contrafouris, Andrew C. Chatzis, Meletios A. Kanakis, Prodromos A. Azariadis, Fotios A. Mitropoulos   +4 more
doaj   +1 more source

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract We report a 17‐year‐old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder.
Jorge L. Rodriguez‐Gil, Peter L. Nagy, Uta Francke   +2 more
wiley   +1 more source

A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation [PDF]

, 2023
Supravalvular aortic stenosis (SVAS) is an autosomal dominant disease resulting from elastin (ELN) haploinsufficiency. Individuals with SVAS typically develop a thickened arterial media with an increased number of elastic lamellae and smooth muscle cell (
Brengle, Bridget M, Halabi, Carmen M, Jones, Kara D, Lin, Michelle, Mecham, Robert P, Roth, Robyn A, Wagenseil, Jessica E   +6 more
core   +2 more sources

Disorders of puberty and neurodevelopment: A shared etiology?

Annals of the New York Academy of Sciences, Volume 1541, Issue 1, Page 83-99, November 2024.
Disorders of puberty result primarily from dysregulation of gonadotropin‐releasing hormone secretion in the hypothalamus. Studies have uncovered associations between pubertal timing and neurodevelopment. This review discusses the overlap between the brain circuitry controlling puberty and behavior, highlights neurodevelopmental conditions with ...
Jordan E. Read, Alexandru Vasile‐Tudorache, Angel Newsome, María José Lorente, Carmen Agustín‐Pavón, Sasha R. Howard   +5 more
wiley   +1 more source

Supravalvular aortic arch stenosis: A report of progressive disease and endovascular hybrid repair in a child

Annals of Vascular Surgery - Brief Reports and Innovations, 2022
Objective: This case highlights the clinical consequences of elastin (ELN) arteriopathy, which affects the supravalvular aorta, the branches of the arch and pulmonary arterial branches.
Pradeep Pravinkumar Mistry, Dirk Andries le Roux, Karabo Sekopi Mosiane, Nezerith Cengiz, Karunagaran Govendrageloo, Prof Jayandiran Pillai   +5 more
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