Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

摘要

Congenital heart defects (CHDs) are a group of structural abnormalities of the heart that have a combined incidence of approximately 1% in humans. It is estimated that 4-5% of CHDs are associated with chromosome abnormalities, 1-2% are associated with single gene syndromes, and 1-2% are due to known teratogens, with the rest presumably determined in a multifac-torial fashion.