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RYR2

Associated conditions:

  • Arrhythmia
  • Cardiomyopathy

RYR2 makes a channel that releases the calcium needed for each heartbeat. Genetic changes in this gene let calcium leak and are associated with an autosomal dominant condition called CPVT, a rhythm disorder in which exercise or stress can trigger dangerous fast heartbeats and fainting or sudden death in young people. Knowing your genetic status enables beta-blocker treatment and avoiding intense exertion, which are highly protective.

Conditions linked to RYR2

Arrhythmia

An arrhythmia is an abnormal heart rhythm. Inherited forms can cause fast, irregular or dangerous rhythms and, rarely, sudden collapse, so carriers benefit from heart-rhythm testing, sometimes medication, and avoiding specific triggers.

Cardiomyopathy

Cardiomyopathy is disease of the heart muscle that can make it thickened, enlarged or weakened. Inherited forms can affect the heart’s pumping or rhythm, so carriers are monitored with heart scans and ECGs and treated early to protect heart function.