Hypoplastic left heart. Evidence for possible autosomal recessive inheritance.
Six families with a total of 15 individuals with hypoplastic left heart syndrome in nine separate sibships are presented. In all patients the disorder was inexorably progressive and ultimately fatal with death occurring, with one exception, within the first two weeks of life. The distribution of the patients in the patients in the reported families is suggestive of autosomal recessive inheritance. Consanguinity could be demonstrated in five of the nine reported sibships. The results of a survey of newborns, using truncate ascertainment of families through affected infants, were compatible with the above hypothesis.
D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree