Autosomal dominant inheritance of left ventricular outflow tract obstruction.
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.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. m.w.wessels@erasmusmc.nl
Berger
Rolf M F
RM
Frohn-Mulder
Ingrid M E
IM
Roos-Hesselink
Jolien W
JW
Hoogeboom
Jeanette J M
JJ
Mancini
Grazia S
GS
Bartelings
Margot M
MM
Krijger
Ronald de
Rd
Wladimiroff
Jury W
JW
Niermeijer
Martinus F
MF
Grossfeld
Paul
P
Willems
Patrick J
PJ
D000818:Animals; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D010375:Pedigree; D012196:Review Literature as Topic; D014694:Ventricular Outflow Obstruction / Q000235:genetics* / Q000473:pathology