Fig. 1

a Pedigree of the affected family is comprised of three generations. The squares and circles indicate males and females, respectively. Participating members of each generation are indicated numerically. The arrow appoints the proband of the family. The mutation, c.T929C in GATA4, has been demonstrated that segregated in this family; b All members with the heart defects were diagnosed by transthoracic echocardiography. ASD is clearly displayed through 3D reconstruction (bottom). ASD, atrial septal defect