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.