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Autosomal dominant inheritance of left ventricular outflow tract obstruction
Author(s) -
Wessels Marja W.,
Berger Rolf M.F.,
FrohnMulder Ingrid M.E.,
RoosHesselink Jolien W.,
Hoogeboom Jeanette J.M.,
Mancini Grazia S.,
Bartelings Margot M.,
Krijger Ronald de,
Wladimiroff Jury W.,
Niermeijer Martinus F.,
Grossfeld Paul,
Willems Patrick J.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30601
Subject(s) - hypoplastic left heart syndrome , bicuspid aortic valve , ventricular outflow tract obstruction , cardiology , ventricle , medicine , stenosis , aorta , aortic valve , aortic arch , anatomy , heart disease , mitral valve
Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. © 2005 Wiley‐Liss, Inc.