Introduction. Long QT syndrome is a repolarisation disorder of myocardium that results in prolonged QT interval on electrocardiogram. At least 16 genes are linked to this disorder. Long QT syndrome type 8 is caused by CACNA1C mutations. It makes up <1% of all the congenital long QT syndrome cases. CANCA1C gene codes ax subunit of calcium channel CaV1.2. Gain of funclion mutations in CACNA1C are common among Timothy syndrome and long QT syndrome type 8 cases. At least 16 different mutations in CACNA1C gene cause long QT syndrome type 8.
