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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

CPVT most commonly results from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for up to 5 percent of cases. Mutations in other genes are rare causes of the condition.

The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in the movement of calcium within myocytes, which is critical for the regular contraction of these cells.

Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes, which interferes with the coordination of contraction and relaxation of the heart, particularly during exercise or emotional stress. Impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.

Similarly, other genes involved in CPVT play roles in calcium regulation in myocytes. Mutations in these genes also disrupt the normal movement of calcium inside these cells, impairing the coordination of heart beats.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Catecholaminergic polymorphic ventricular tachycardia?"},{"bodyHtml":"

If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"catecholaminergic-polymorphic-ventricular-tachycardia","sourceDocuments":[{"name":"Catecholaminergic polymorphic ventricular tachycardia","reviewed":"2020-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:06.231859+00:00","label":"Causes","pageSha256":"2f1f7686f86b2e79ce1998316500716322d4c0bc17165a442996eb3de18e8f5c","sourceUrl":"https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Catecholaminergic polymorphic ventricular tachycardia"},"schemaVersion":1}