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Dominant mode of inheritance in atrial septal defect
Author(s) -
Zetterqvist Per,
Turesson Ingemar,
Johansson Bengt W.,
Laurell Stephan,
Ohlsson NilsMagnus
Publication year - 1971
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1971.tb00259.x
Subject(s) - penetrance , septum secundum , expressivity , inheritance (genetic algorithm) , cardiology , autopsy , atrial septum , medicine , genetics , biology , phenotype , gene
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.