Scimitar vein anomaly with multiple cardiac malformations, craniofacial and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?

The scimitar vein “syndrome” is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to non-consanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though 5 familial cases of scimitar “syndrome” have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein “syndrome” is not a “syndrome” per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component.