Research progress on phenotype and mechanism of cardiac disease caused by CACNA1C gene mutations / 中华实用儿科临床杂志

ABSTRACT

Mutations in the CACNA1C gene which encodes the α1C subunit of voltage dependent l-type Ca2+ channel can cause mental and cardiovascular diseases.It is the pathogenic gene of Timothy syndrome.Its cardiovascular-system phenotype mainly includes long QT syndrome, Brugada syndrome, short QT syndrome, etc.In recent years, it has been found that CACNA1C gene mutations can also lead to non-syndromic phenotypes, including congenital heart disease, cardiomyopathy, etc, further enriching the clinical phenotype of CACNA1C gene mutation.Now, the recent advances in heart disease phenotypes and mechanisms involved in CACNA1C gene mutations are reviewed.