Catecholaminergic polymorphic ventricular tachycardia

Causes

What causes catecholaminergic polymorphic ventricular tachycardia?

Catecholaminergic polymorphic ventricular tachycardia is caused by mutations in the following genes:

  • RYR2
  • CASQ2
  • TRDN
  • CALM1

RYR2 mutations account for about 50% of all cases of catecholaminergic polymorphic ventricular tachycardia, whereas CASQ2 accounts for about 1-2%. TRDN accounts for 1-2% of cases and CALM1 accounts for less than 1%. It is also possible for an individual to have the condition without a mutation in either of these genes. In cases such as these, the cause is unknown.

The RYR2 and CASQ2 genes are responsible for making a protein found in heart muscle cells. These proteins help the heart beat in a normal rhythm through contraction and relaxation. When there is a mutation or change in either of these genes, the protein is unable to help regulate the heartbeat and may result in an abnormally fast heartbeat (tachycardia).

Next step: Visit Genetics Home Reference to learn more about the RYR2 and CASQ2 genes.

Genetics Home Reference. (Reviewed December 2009). Catecholaminergic polymorphic ventricular tachycardia. Retrieved from https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia#.

Genetics Home Reference. (Reviewed December 2009). RYR2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/RYR2.

Napolitano, C., Priori, S. G., Bloise, R. (2016). Catecholaminergic polymorphic ventricular tachycardia. Gene Reviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1289/.

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