Inherited arrhythmias: The cardiac channelopathies

Inherited sodium channelopathies: models for acquired arrhythmias?

VOLTAGE-GATED Na channels, transmembrane proteins that produce the ionic current responsible for the rapid upstroke of the cardiac action potential, are key elements required for rapid conduction through the myocardium and maintenance of the cardiac rhythm. As such, inherited mutations in SCN5A, the gene encoding the human cardiac Na channel (hH1; Fig. 1), are associated with a range of life-th...

Channelopathies - Emerging Trends in The Management of Inherited Arrhythmias

In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young) adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and identifying and protecting affected family members. This has been made possible by the vast advances i...

Management of ventricular arrhythmias in suspected channelopathies.

Inherited Arrhythmias in Children

Sinus node dysfunction has been described as an inherited (autosomal recessive form) problem by Benson et al1. The cause seems to be certain specific mutations on the SCN5A gene. Patients with long QT type 3 (SCN5A mutation) have sinus bradycardia as part of the spectrum of abnormalities in this disease2. Atrial standstill is a rare condition where the atrium is silent i.e. there is no electric...

Understanding cardiac calcium channelopathies.

Timothy syndrome is a rare genetic disorder characterized by QT prolongation (designated LQT8), arrhythmias and sudden death, structural heart disease, cognitive defects with autism, syndactyly (webbed fingers and toes), hypoglycemia, and immune deficiencies.1,2 A single mutation (G406R) in exon 8a of the cardiac L-type calcium channel (CACNA1C, Cav1.2, 1c) was shown to cause Timothy syndrome i...