PerCar - Perinatal Cardiology

Pagine ed articoli di informazioni sulle cardiopatie congenite dal feto al giovane adulto. Potete usare questa sezione per potere interagire con i medici

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.

ABSTRACT: 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.

Journal of Medical Genetics 05/1993; 30(4):328-9. · 5.70 Impact Factor
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