[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children].

Objective: To elucidate association between the mutation of nuclear factor of activated T cells 1 (NFATC1) gene in IPT-NFAT region and simple congenital heart disease (CHD) in children.

Method: We used polymerase chain reaction (PCR) and the sequencing reaction to detect the mutations on the patients and their parents and (or) siblings.

Results: PCR amplification of the exon 7 region showed that 2 bands are obtained in 58% of patients with CHD and in 74% of their healthy parents and (or) siblings.

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

Objective: Atrial septal defect (ASD) is a common congenital heart disease (CHD). Although most cases are sporadic, familial cases have been reported. The transcription factors NKX2.