Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare but potentially life-threatening inherited heart rhythm disorder characterized by abnormal heart rhythms triggered by physical activity or emotional stress. Unlike many other arrhythmia syndromes, individuals with CPVT typically have normal heart structure and resting electrocardiograms.

The arrhythmias in CPVT are caused by abnormal calcium handling in heart muscle cells. During exercise or stress, when catecholamines (adrenaline-like hormones) are released, the heart's electrical system becomes unstable, leading to rapid, irregular heartbeats that can degenerate into ventricular fibrillation and sudden cardiac death.

Symptoms typically first appear in childhood, usually between ages 7 and 12, and include exercise-induced fainting, palpitations, dizziness, and in severe cases, sudden cardiac arrest. The condition is often initially misdiagnosed as epilepsy because the fainting episodes may be associated with seizure-like activity due to reduced blood flow to the brain.

CPVT can be inherited in either an autosomal dominant pattern (RYR2 gene mutations, accounting for about 60% of cases) or autosomal recessive pattern (CASQ2 and other genes). Management includes lifestyle modifications, beta-blocker medications, and in some cases, implantable cardioverter-defibrillators.

NutraHacker examines the following genes related to CPVT:

• RYR2
• CASQ2
• TRDN

For more information about your own genetic profile as related to CPVT, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.