Arrhythmogenic Disorders · Pathology

Which genetic disorder is associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)?

  1. Mutation in ryanodine receptor gene
  2. Deletion of dystrophin gene
  3. Mutation in fibrillin gene
  4. Deletion of the APC tumor suppressor gene
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Correct answer: Mutation in ryanodine receptor gene

CPVT is often caused by mutations in the ryanodine receptor gene (RYR2). These mutations affect calcium handling, leading to stress-induced ventricular arrhythmias.

Difficulty: Medium Question 11 of 20

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