Catecholaminergic polymorphic ventricular tachycardia: MedlinePlus Genetics (2023)


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 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.


The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.

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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.

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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.

Learn more about the genes associated with Catecholaminergic polymorphic ventricular tachycardia

  • CASQ2
  • RYR2

Additional Information from NCBI Gene:


When CPVT results from mutations in the RYR2 gene, it follows an autosomal dominant inheritance pattern, which means 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 (de novo) mutations in the RYR2 gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These cases occur in people with no history of the disorder in their family.

When CPVT is caused by mutations in the CASQ2 gene, the condition almost always has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means 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. Very rarely, CASQ2-related CPVT may follow an autosomal dominant pattern of inheritance.

When caused by mutations in other genes, CPVT can be inherited in an autosomal dominant or autosomal recessive pattern.

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Other Names for This Condition

  • Bidirectional tachycardia induced by catecholamines
  • Catecholamine-induced polymorphic ventricular tachycardia
  • CPVT
  • Familial polymorphic ventricular tachycardia
  • FPVT


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Is catecholaminergic polymorphic ventricular tachycardia genetic? ›

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting.

What gene causes catecholaminergic polymorphic ventricular tachycardia? ›

CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion.

Is CPVT genetic? ›

CPVT is a rare genetic condition. It can cause VT. This is an abnormal heart rhythm.

What is the genetic cause of CPVT? ›

Causes. 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.

Is ventricular tachycardia hereditary? ›

A family history of tachycardia or other heart rhythm disorders makes a person more likely to develop ventricular tachycardia.

How do I know if I have CPVT? ›

Symptoms. Individuals with CPVT may have symptoms from abnormal heart rhythms (arrhythmias), including palpitations, episodic lightheadedness, or fainting episodes. Individuals may also report a history of seizure, though these are sometimes misdiagnosed episodes of arrhythmias.

What is polymorphic genetic marker? ›

Polymorphism, as related to genomics, refers to the presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations. The most common type of polymorphism involves variation at a single nucleotide (also called a single-nucleotide polymorphism, or SNP).

How rare is CPVT? ›

CPVT is a rare arrhythmogenic disorder characterized by adrenergic-induced bidirectional and polymorphic VT. The prevalence of the disease is estimated to be 1:10 000 in Europe.

What is the death rate of CPVT? ›

CPVT occurs in children and adolescents and causes syncope and sudden cardiac death at a young age, in the absence of structural heart disease. The resting ECG, including the QTc interval, is nor- mal. The mortality of CPVT is extremely high, reaching 31% by the age of 30 years when untreated.

Can ventricular tachycardia be caused by stress? ›

Emotional stressors can lead to ventricular ectopic beats and ventricular tachycardia. Though disturbances of cardiac rhythm due to emotional stress are often transient, sometimes the consequences can be seriously damaging and even fatal [11].

How many people have CPVT? ›

About 1 out of every 10,000 people have CPVT. You may be more likely to have this condition if there is a history of premature death in your family, since undiagnosed CPVT can cause such sudden deaths.

What is the most common cause of ventricular tachycardia? ›

Ventricular tachycardia most often occurs when the heart muscle has been damaged and scar tissue creates abnormal electrical pathways in the ventricles. Causes include: Heart attack. Cardiomyopathy or heart failure.

What drug causes polymorphic ventricular tachycardia? ›

These include primarily the antiarrhythmic drugs (IA, IC, sotalol and bepridil), digitalis, sympathomimetics and phosphodiesterase inhibitors.

Can you live with CPVT? ›

Without treatment, CPVT can lead to health complications, including cardiac arrest, when your heart suddenly stops beating. Cardiac arrest can be life-threatening. But with treatment, many people with CPVT live a high quality of life.

Are you born with ventricular tachycardia? ›

SVT can be congenital, which means a child is born with it. Or SVT can develop later in life. Sometimes SVT happens because of other heart conditions.

What is life expectancy with ventricular tachycardia? ›

In patients with structural heart disease (often coronary artery disease), ventricular arrhythmia is an adverse prognostic factor associated with cardiac arrest and death. Sustained VT in structurally abnormal heart has high mortality risk of about 20% at 2 years.

What heart conditions are hereditary? ›

These include:
  • Hypertrophic Cardiomyopathy (HCM)
  • idiopathic or familial Dilated Cardiomyopathy (DCM)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • restrictive cardiomyopathy.
Nov 18, 2022

Can you exercise with CPVT? ›

Current guidelines strongly recommend that patients with CPVT abstain from high-intensity, strenuous, and competitive exercise.

What are the 4 types of genetic polymorphism? ›

Various types of polymorphisms include:
  • single nucleotide polymorphisms (SNPs)
  • small-scale insertions/deletions.
  • polymorphic repetitive elements.
  • microsatellite variation.
Jan 11, 2007

How do you detect genetic polymorphism? ›

Commonly used genotyping methods include gel electrophoresis-based techniques, such as polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism analysis, multiplex PCR, and allele-specific amplification.

What are the four types of genetic markers? ›

Examples of genetic markers are single polymorphism nucleotides (SNPs), restriction fragment length polymorphisms (RFLPs), variable number of tandem repeats (VNTRs), microsatellites, and copy number variants (CNVs).

What drugs treat CPVT? ›

Propafenone could be effective for treatment of patients with CPVT. The beneficial effect of the monotherapy with propafenone in our patient may result from the combined antiarrhythmic effect of this drug with Na+ channel blockade and beta blocker capabilities.

Is catecholaminergic polymorphic ventricular tachycardia dominant or recessive? ›

A family history of exercise-related syncope, seizure, or sudden death is reported in 30% of the patients. Family screening is mandatory because CPVT is an autosomal dominant disease.

Is ARVC genetic? ›

Inheritance. Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder.

Is MVD genetic? ›

The exact cause of MVD is not known. In some breeds, however, there is very strong evidence that it may be genetic. Learn more about mitral valve disease.

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