11. Hypertrophic Cardiomyopathy: The Heavy Heart of FRDA
Friedreich’s Ataxia also impacts the heart, with hypertrophic cardiomyopathy being a common symptom. This condition involves the thickening of the heart muscle, which can interfere with the heart’s ability to pump blood efficiently.
Hypertrophic cardiomyopathy is the most common form of genetic heart disease. It’s caused by changes in the genes in heart muscle proteins.
A thickened heart muscle can make it harder for the heart to pump blood. If the condition progresses, the heart can become stiff, and the heart’s left ventricle can’t fill properly (diastolic dysfunction), reducing the amount of blood pumped with each heartbeat.
This symptom ties into the muscular coordination issues prevalent in FRDA. In hypertrophic cardiomyopathy, the heart muscle cells enlarge, causing the walls of the ventricles (usually the left ventricle) to thicken. This might block the blood flow out of the ventricle — a potentially life-threatening complication.
Moreover, hypertrophic cardiomyopathy can lead to disruptions in the heart’s electrical system, leading to life-threatening abnormal heart rhythms (arrhythmias) and sudden cardiac death. This once again underscores the multifaceted nature of Friedreich’s Ataxia and the need for comprehensive care. (11)
