[Truncus arteriosus: an autosomal recessive disease?]

Truncus arteriosus is an uncommon heart malformation; it is not reported that recurrence is high; nevertheless authors report three families with two or more cases; in the third there is a very high consanguinity (two uncle-niece marriages). The authors compare the situation with hypoplastic left heart and think that some cases of truncus arteriosus would have an autosomal recessive inheritance. That is an another argument for suggesting an echocardiographic survey of the pregnancies in these families.