About Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac arrhythmia syndrome characterized by exercise- or catecholamine (epinephrine/adrenaline)-induced bidirectional or polymorphic ventricular tachycardia with high risk of sudden cardiac death. Autosomal dominant CPVT (most common, ~70% of cases) results from mutations in the RYR2 gene encoding cardiac ryanodine receptor (calcium release channel in sarcoplasmic reticulum), while autosomal recessive forms result from CASQ2 mutations encoding calsequestrin-2 (calcium-binding protein).
These mutations impair intracellular calcium handling and cycling, causing abnormal calcium dynamics within myocytes that trigger ectopic activity. Crucially, affected patients have structurally normal hearts and normal baseline ECGs at rest, distinguishing CPVT from other inherited arrhythmia syndromes.
Stress, exercise, or strong emotional stimuli trigger bidirectional ventricular tachycardia (alternating axis on ECG) or polymorphic ventricular tachycardia that can rapidly degenerate to ventricular fibrillation and sudden death. Symptoms typically begin in childhood or adolescence with unexplained syncope during exercise or emotional stress, though some patients remain asymptomatic until provoked.
Common Symptoms of Catecholaminergic Polymorphic Ventricular Tachycardia
Recognizing the signs of Catecholaminergic Polymorphic Ventricular Tachycardia early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Syncope triggered by stress, emotion, or exercise
- Polymorphic or bidirectional ventricular tachycardia
- Sudden cardiac death risk, especially in children
- Palpitations and light-headedness
- Normal baseline ECG
- Exercise-induced symptoms
Who Catecholaminergic Polymorphic Ventricular Tachycardia Affects
Catecholaminergic polymorphic ventricular tachycardia often manifests in childhood to young adulthood with stress or emotion-triggered syncope, though some patients remain asymptomatic until later years or until cardiac events occur.
The condition affects males and females. Autosomal dominant inheritance (RYR2 mutations) accounts for approximately 70% of cases, with ~50% of offspring of affected parents inheriting mutations. Autosomal recessive forms (CASQ2 mutations) are found primarily in certain populations including Middle Eastern and Mediterranean ancestry groups. De novo mutations account for minority of cases.
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