Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: An autosomal recessive disorder?

Nordenberg, Dale; Hanna, Brian D.; Fouron, Jean‐Claude; Kaloustian, Vazken M. Der; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320320208

Cited by 5 publications

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References 8 publications

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“…Nonsyndromic LVOTO anomalies usually occur sporadically or in familial patterns compatible with multifactorial inheritance [Simon et al, 1974; Boon and Roberts, 1976; Brownell and Shokeir, 1976]. Only a small number of nonsyndromic cases with monogenic inheritance of LVOTO have been reported [Cough, 1961; Shokeir, 1971; Beekman and Robinow, 1985; McDonald and Maurer, 1989; Nordenberg et al, 1989; Menahem, 1990; Gerboni et al, 1993; Grobman and Pergament, 1996; Grossfeld, 1999; Stoll et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant inheritance of left ventricular outflow tract obstruction

et al. 2005

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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.

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