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ACTN2

Associated conditions:

  • Cardiomyopathy

ACTN2 makes alpha-actinin-2, a scaffolding protein that anchors the contracting filaments of heart muscle at their attachment points. Genetic changes in this gene are associated with an autosomal dominant risk of hypertrophic, dilated, or restrictive cardiomyopathy. Knowing your genetic status enables heart monitoring that catches thickening or weakening before symptoms or dangerous rhythms appear.

Conditions linked to ACTN2

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.