ISOLATED HYPOPLASTIC LEFT-HEART SYNDROME IN 3 SIBLINGS

Background: Reports of recurrent isolated hypoplastic left heart syndr ome have been infrequent, and the genetic basis of this occurrence is not well understood. Case: A 32-year-old woman with a noncontributory medical and family history terminated her first pregnancy after the fe tus was diagnosed with hypoplastic left heart syndrome. Chromosomes we re normal and no extracardiac anomalies were found at autopsy. In one subsequent pregnancy, a healthy live-born neonate was delivered, but i n two other pregnancies isolated hypoplastic left heart syndrome was d iagnosed again. Conclusion: Parents with an infant affected with hypop lastic left heart syndrome have been quoted a recurrence risk of 2%. T he occurrence of isolated hypoplastic left heart syndrome in three sib lings suggests that this anomaly has an autosomal recessive mode of in heritance. Consequently, the possibility of a recurrence risk higher t han 2% should be included during counseling.