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

Abstract

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 nonconsanguineous 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 five 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.

Clinical spectrum of infantile scimitar syndrome: A tertiary center experience

“…Ruggieri et al and Kahraman et al [1415] reported the association of dysmorphic features, craniofacial and central nervous system anomalies, and renal agenesis with scimitar syndrome, in addition to the associations with Turner syndrome and VATER that were reported in the infantile group in the study by Najm et al [9] In our study, one patient was diagnosed with Down's syndrome, and three other patients had facial dysmorphic features and multiple system malformations that did not fit with any known syndrome. In addition, 50% of the patients were products of consanguineous marriage.…”

Congenital Anomalies and Malformations of the Vasculature

“…2,3 Familial total anomalous pulmonary venous return is most likely an X-linked inheritance and autosomal dominant with variable expression and incomplete penetrance. Until now, two candidate genes have been proposed.…”

Eponym

“…The age at the time of detection of scimitar syndrome, anomalous systemic arterial supply, severely obstructed pulmonary venous connections, and complex congenital heart malformations all contribute to the poor prognoses [20,36]. In general, prognoses of infantile type scimitar syndrome, which are presenting with heart failure and have more associated anomalies, are much worse than the adult form, either with or without surgery [20,45].…”