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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder with a mutation in what?

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Final answer:

CPVT is a genetic disorder caused by mutations in the RYR2 gene, leading to abnormal calcium ion release in cardiac cells and potentially dangerous heart rhythms.

Step-by-step explanation:

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that primarily involves mutations in genes responsible for calcium regulation in the heart's cells. The specific mutation can occur in the RYR2 gene, which encodes the ryanodine receptor 2, a key calcium release channel in the cardiac muscle cells. This mutation causes an abnormal release of calcium ions during cardiac excitation, leading to potentially life-threatening ventricular tachycardia.

Research continues to reveal the precise mechanisms and cellular abnormalities that contribute to CPVT and similar heart conditions, like the recent study on Noonan Syndrome with Multiple Lentigines (NSML), which showed unexpected hypertrophic effects due to mutations in endocardial cells.

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