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NKX2-5

Associated conditions:

  • Cardiomyopathy

NKX2-5 makes a master control protein that directs how the heart forms and how its electrical wiring develops. Genetic changes in this gene are associated with an autosomal dominant risk of congenital heart defects such as holes between the chambers, along with conduction block and cardiomyopathy that may appear in adulthood. Knowing your genetic status enables heart monitoring that guards against sudden rhythm problems.

Conditions linked to NKX2-5

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.