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Catecholaminergic polymorphic ventricular tachycardia
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Reviewed December 2009
What is catecholaminergic polymorphic ventricular tachycardia?
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.
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.
How common is catecholaminergic polymorphic ventricular tachycardia?
The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.
What genes are related to catecholaminergic polymorphic ventricular tachycardia?
CPVT can result 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 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown.
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 handling 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. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.
How do people inherit catecholaminergic polymorphic ventricular tachycardia?
When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new mutations in the RYR2 gene and occur in people with no history of the disorder in their family.
When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of catecholaminergic polymorphic ventricular tachycardia?
These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about catecholaminergic polymorphic ventricular tachycardia?
You may find the following resources about catecholaminergic polymorphic ventricular tachycardia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for catecholaminergic polymorphic ventricular tachycardia?
What if I still have specific questions about catecholaminergic polymorphic ventricular tachycardia?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding catecholaminergic polymorphic ventricular tachycardia?
arrhythmia ; autosomal ; autosomal dominant ; autosomal recessive ; calcium ; cardiac ; cardiac arrest ; cell ; contraction ; fainting ; familial ; gene ; inheritance ; muscle cells ; mutation ; myocytes ; pattern of inheritance ; prevalence ; recessive ; stress ; syncope ; tachycardia
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.