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. Mutations in these genes also disrupt the normal movement of calcium inside these cells, impairing the coordination of heart beats. Similarly, other genes involved in CPVT play roles in calcium regulation in myocytes.

Impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT. 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. 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. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. Mutations in other genes are rare causes of the condition. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for up to 5 percent of cases. CPVT most commonly results from mutations in two genes, RYR2 and CASQ2.

Cvt aa library