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Dominant mode of inheritance in atrial septal defect

1971; Wiley; Volume: 2; Issue: 2 Linguagem: Inglês

10.1111/j.1399-0004.1971.tb00259.x

1399-0004

PER ZETTERQVIST, Ingemar Turesson, Bengt W. Johansson, Stephan Laurell, Nils‐Magnus Ohlsson,

Congenital heart defects research

Two kindreds showing an accumulation of secundum‐type atrial septal defects have been traced back to common ancestors in the 18th century. The distribution of affected individuals in the combined pedigree satisfies the criteria of a dominant mode of inheritance. The diagnosis is considered certain in 16 cases (verified at operation in nine, at autopsy in one, and by heart catheterization in two) and more or less strongly suggested in four. Evidence from this and some additional reports gives support to the hypothesis that in exceptional cases atrial septal defect may be inherited as an autosomal dominant character showing high or even complete penetrance and little variation in expressivity. This does not contradict the generally accepted view that, in most cases, atrial septal defect as well as other cardiovascular malformations must be due to multifactorial mechanisms.