Catecholaminergic polymorphic ventricular tachycardia

Inheritance

How does catecholaminergic polymorphic ventricular tachycardia run in families?

Catecholaminergic polymorphic ventricular tachycardia can be inherited in an autosomal dominant or autosomal recessive manner, depending on the gene affected. Humans typically have two copies of every gene. In autosomal dominant conditions, only 1 copy of the gene needs have a mutation for an individual to be affected with the condition. In autosomal recessive conditions, both copies of the gene will need to have a mutation for an individual to be affected. If the condition is autosomal recessive and there is a mutation in 1 copy of the gene, the individual is considered to be a carrier and does not exhibit any symptoms. Recessive conditions may not appear in every generation in the family if individuals are carriers.

In catecholaminergic polymorphic ventricular tachycardia, CALM1 and RYR2 genes are inherited in an autosomal dominant pattern. CASQ2 and TRDN are inherited in an autosomal recessive pattern.

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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