Author: Johnson Francis

KCNJ5 or the potassium inwardly-rectifying channel, subfamily J, member 5 is the gene involved in in congenital long QT syndrome 13 (LQTS13).

Long QT syndrome 13 (LQT13) has been described by Yang and associates in a large four generation Chinese family in 2010.

Twelve types of familial atrial fibrillation has been described in the OMIM (Online Mendelian Inheritance in Man) database.

Familial WPW syndrome: About three percent of WPW syndrome can have a familial occurrence and one of the genes identified is PRKAG2.

CPVT in short for catecholaminergic polymorphic ventricular tachycardia is probably the most lethal of the cardiac channelopathies.

Long QT syndromes have a phenotype of delayed depolarization due to ion channel mutations, causing QT prolongation and risk of ventricular arrhythmias.

Important cardiac channelopathies are the long QT syndromes, Brugada syndrome, CPVT, short QT syndrome and congenital sick sinus syndrome.

Syndromes in CHD (congenital heart disease)

Sudden death in young athletes could be due to hypertrophic cardiomyopathy, commotio cordis, coronary anomalies, aortic stenosis and long QT syndrome.

Hypoplastic left heart syndrome: hypoplasia of left heart at multiple levels - hypoplastic left ventricle, aortic atresia and a hypoplastic ascending aorta.