Table 1

 Clinical and molecular characteristics of familial and sporadic patients

MutationFamilial patientsSporadic patientsCardiac defects
ASDosVSDPVSAV blockOther
*One familial case with multiple muscular ventricular septal defects. ASDos, atrial septal defect ostium secundum; VSD, ventricular septal defect; PVS, pulmonary valve stenosis; AV, atrioventricular; LVMN, left ventricular myocardial noncompaction; MVP, mitral valve prolapse; AVCD, atrioventricular canal defect; APVR, anomalous pulmonary venous return; SVT, supraventricular tachycardia.
NKX2.5 2132*031 LVMN; 1 MVP
GATA4 202120
Negative1212242301 AVCD; 1 APVR, 1 SVT