Catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT), also known as catecholamine-induced polymorphic ventricular tachycardia or familial polymorphic ventricular tachycardia, is a rare inherited cardiac arrhythmia disorder characterized by abnormal heart rhythms (ventricular tachycardia) triggered by physical exertion or emotional stress. The condition primarily affects the heart's electrical conduction system, specifically the regulation of calcium within cardiac muscle cells. During exercise or emotional arousal, the release of catecholamines (stress hormones such as adrenaline) provokes bidirectional or polymorphic ventricular tachycardia, which can degenerate into ventricular fibrillation and cause sudden cardiac arrest or death. The resting electrocardiogram (ECG) is typically normal, and the heart is structurally normal, which can make diagnosis challenging. CPVT usually presents in childhood or adolescence, most commonly between the ages of 7 and 12 years. Key symptoms include exercise- or stress-induced syncope (fainting), seizure-like episodes due to transient cardiac arrest, dizziness, and palpitations. Tragically, sudden cardiac death may be the first manifestation of the disease in some individuals. A family history of unexplained sudden death in young relatives is an important diagnostic clue. Diagnosis is typically confirmed through exercise stress testing, which can provoke the characteristic arrhythmias. The most common form of CPVT (CPVT1) is caused by mutations in the RYR2 gene encoding the cardiac ryanodine receptor and follows autosomal dominant inheritance. A less common autosomal recessive form (CPVT2) is caused by mutations in the CASQ2 gene encoding cardiac calsequestrin. Additional rare genetic subtypes have been identified involving other genes related to intracellular calcium handling. Treatment includes strict avoidance of competitive sports and strenuous exercise, beta-blocker therapy (nadolol is often preferred), and in some cases flecainide as an adjunctive medication. An implantable cardioverter-defibrillator (ICD) may be considered for patients who remain at high risk despite medical therapy, and left cardiac sympathetic denervation (LCSD) is an option for refractory cases. With appropriate treatment, the prognosis can be significantly improved, though lifelong management and monitoring are required.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Catecholaminergic polymorphic ventricular tachycardia