CACNA1C
Associated conditions:
- Arrhythmia
- Cardiomyopathy
CACNA1C makes a channel that lets calcium into cells, driving the electrical rhythm of the heartbeat and signaling in many tissues. Genetic changes in this gene hold the channel open too long and are associated with an autosomal dominant condition called Timothy syndrome and a dangerously prolonged QT rhythm. Knowing your genetic status enables treatment to prevent life-threatening arrhythmias.
Conditions linked to CACNA1C
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.
