Scimitar syndrome and anomalous left circumflex artery in siblings with familial myelin regulatory factor gene mutation

Abstract

Scimitar syndrome in conjunction with congenital coronary artery anomalies is a rare combination. We describe two siblings with both Scimitar syndrome and an anomalous left circumflex artery from the pulmonary artery, who were both found to have a genetic mutation in the myelin regulatory factor gene. This represents the first familial association between this gene and this CHD combination.