Autosomal dominant inheritance of left ventricular outflow tract obstruction

• Published in: American journal of medical genetics. Part A Vol. 134A; no. 2; pp. 171 - 179
• Main Authors: Wessels, Marja W., Berger, Rolf M.F., Frohn-Mulder, Ingrid M.E., Roos-Hesselink, 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.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.04.2005
• Subjects: Animals; autosomal dominant; Cardiovascular Abnormalities - genetics; Family Health; Female; Genes, Dominant - genetics; Humans; left ventricular outflow tract obstruction; LVOTO; Male; Mice; Pedigree; prenatal diagnosis; Review Literature as Topic; Ventricular Outflow Obstruction - genetics; Ventricular Outflow Obstruction - pathology
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.30601

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.