Familial coarctation of the aorta in three generations.
Four members in three generations of a family were affected by a coarctation of the aorta (CoA) which was mild or severe, either isolated or in association with other cardiac defects. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with incomplete penetrance and variable expressivity rather than polygenic inheritance.
Stoll
C
C
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Alembik
Y
Y
Dott
B
B
D001017:Aortic Coarctation / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree