PKP2
Associated conditions:
- Arrhythmia
- Cardiomyopathy
PKP2 makes plakophilin-2, part of the desmosome junctions that glue heart muscle cells together. Genetic changes in this gene weaken these links and are associated with an autosomal dominant condition called arrhythmogenic cardiomyopathy, in which muscle is replaced by fat and scar, raising the risk of dangerous rhythms and sudden death during exercise. Knowing your genetic status enables screening and guidance on avoiding intense exercise.
Conditions linked to PKP2
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.
