Abstract

Total anomalous pulmonary venous connection (TAPVC) to unroofed coronary sinus is a rare cardiac condition. We report the first case of antenatal diagnosis which had a rapid and fatal neonatal course due to spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). The diagnosis of TAPVC with unroofing of the coronary sinus was made at 26 weeks’ gestation, although a dilated inferior caval vein had been recognised at 23 weeks’ gestation. Due to profound hypotonia after birth, genetic review followed by muscle biopsy was performed due to presumptive diagnosis of SMA. The infant deteriorated rapidly, became ventilator dependent and died at the age of 6 weeks. The worst types of SMA are associated with only one copy of SMN2 (survival motor neuron 2) protein, which was also the case of our infant. Although a powerful association with congenital heart defects was described, it has not been reported with TAPVC to unroofed coronary sinus. Moreover, this cardiac condition has not been previously recognised antenatally.