Familial coarctation of the aorta in three generations
Stoll, C.; Alembik, Y.; Dott, B.
Annales de Genetique 42(3): 174-176
1999
ISSN/ISBN: 0003-3995 PMID: 10526662 Document Number: 498363
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.