WebDec 1, 2012 · ELN arteriopathy is genetically heterogeneous and occurs as a consequence of haploinsufficiency of the ELN gene on … WebJul 27, 2016 · Pathological evaluation of tissue from humans with ELN arteriopathy demonstrates similar subendothelial smooth muscle accumulation as well as smooth muscle hypertrophy, fibrosis, collagen deposition, and disruption of elastic fibers at sites of stenosis ( 57, 58, 59, 60 ).

Williams Syndrome - GeneReviews® - NCBI Bookshelf

WebA strong family history of SVAS was present and targeted genetic testing identified an ELN gene mutation in the boy's affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the ... WebNational Center for Biotechnology Information 77麵飯館

Adrenomyeloneuropathy (AMN) - United Leukodystrophy Foundation

WebSyndromic and Genetic Disorders with Structural Heart Diseases: Williams-Beuren syndrome, ELN arteriopathy, Alagille syndrome, DiGeorge Syndrome/22q11.2 deletion … WebIt is elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. SVAS is a generalized disease of the arterial wall caused by the thickening of the media or intima layers, not related to atherosclerosis, which results in narrowing of the lumen of the ascending aorta or other arteries. SVAS usually affects branches of ... WebThe mid abdominal aorta showed lesions suggestive of a systemic elastin arteriopathy. Molecular analysis, however, could not attribute this disease to a variant in the elastin gene, the most common causative gene for SVAS. 77高机