Cardiac features
Interestingly, CSCF patients showed a wide range of cardiac anomalies. Congenital heart defects that mostly seem to be left sided are reported in 7/13 patients ranging from mitral valve prolapse to hypoplastic left heart syndrome spectrum (Y206C variant, patient 11; Table 1 ). Cardiomyopathy was observed in 4/12 patients (1 hypertrophic and 3 dilated), the most severe in a neonate with the 143G>A variant (patient 2), who is on the waiting list for heart transplantation.