Catecholaminergic polymorphic ventricular tachycardia
What causes catecholaminergic polymorphic ventricular tachycardia?
Catecholaminergic polymorphic ventricular tachycardia is caused by mutations in the following genes:
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).
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/.