There are several groups of inherited arrhythmias, with each having several genotypes.
Important ones are:
Long QT Syndrome Brugada Syndrome
Catecholaminergic Polymorphic Ventricular
Tachycardia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Short QT Syndrome
Familial Atrial Fibrillation Sinus Node Disease and Progressive Cardiac Conduction Defect
Homozygous state in congenital long QT syndrome causes defective endolymph secretion in the
inner ear and deafness, and is called Jervell-Lange-Nielsen Syndrome.
Other causes for shortening of QT interval have to be excluded before diagnosing short QT syndrome, like:
Tachycardia
Hyperthermia
Hypercalcemia and
Digoxin
Clinical manifestations of short QT syndrome includes:
Short refractory periods
Inducible Ventricular Fibrillation at EP study
Family history of sudden death and
Atrial fibrillation
Brugada Syndrome:
Most important mutations in SCN5A gene
Autosomal dominant, incomplete penetrance
5 to 66 per 10,000, male predominance ST elevation in precordial leads, polymorphic
ventricular tachycardia
Cardiac arrest, syncope and family history
Arrhythmogenic Right Ventricular Dysplasia now known as Arrhythmogenic Cariomyopathy
as left ventricluar involvement has also been described.
Features include:
Regional or global fibro-fatty replacement of myocardium
1:1000 to 1:10 000 incidence
Syncope, sustained VT, cardiac arrest
Familial in 30%
Autosomal dominant, incomplete penetrance
Epsilon wave on ECG
T wave inversion in anterior leads
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