Article
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
HGG advances - 12 Oct 2023
Blue Elizabeth E, White Janson J, Dush Michael K, Gordon William W, Wyatt Brent H, White Peter, Marvin Colby T, Helle Emmi, Ojala Tiina, Priest James R, Jenkins Mary M, Almli Lynn M, Reefhuis Jennita, Pangilinan Faith, Brody Lawrence C, McBride Kim L, Garg Vidu, Shaw Gary M, Romitti Paul A, Nembhard Wendy N, Browne Marilyn L, Werler Martha M, Kay Denise M, Mital Seema, Chong Jessica X, Nascone-Yoder Nanette M, Bamshad Michael J
Abstract excerpt
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.e., iHLHS) in 70% of families, the vast majority of which are simplex. Despite intense investigation, the...
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