Identification of a Novel Heterozygous Variant Associated with Congenital Complete Heart Block in a Chinese Family

Congenital complete heart block (CCHB) is typically caused by the combination of multiple congenital malformations and a genetic variation that causes ion channel impairment. In the present study, whole exosome sequencing was applied to identify potential causative variants of CCHB in otherwise healthy asymptomatic patients in a Chinese family.