RT Journal Article
SR Electronic
T1 Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 328
OP 329
DO 10.1136/jmg.30.4.328
VO 30
IS 4
A1 S Gerboni
A1 G Sabatino
A1 R Mingarelli
A1 B Dallapiccola
YR 1993
UL http://jmg.bmj.com/content/30/4/328.abstract
AB Five members in three generations of a family were affected by a congenital heart disease. Four of them had mild or severe coarctation of the aorta (CoA), either isolated or in association with other cardiac defects. Fetal echocardiography allowed prenatal diagnosis in one pregnancy at risk. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with high penetrance and variable expressivity rather than polygenic inheritance.