About Arrhythmogenic Cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM, formerly called arrhythmogenic right ventricular cardiomyopathy or ARVC) is a rare genetic heart disease characterized by fibro-fatty replacement of cardiac myocardium, predominantly affecting the right ventricle though biventricular involvement develops with disease progression. The disease is usually caused by mutations in genes for desmosomal proteins, the structures that hold heart muscle cells together. Mutations in PKP2 (plakophilin-2) are the most common cause, and a gene change is found in about 60% of patients.
These mutations impair intercellular adhesion, leading to myocyte death and replacement by fibrous and fatty tissue. Progressive conduction system disease develops with altered electrical properties facilitating re-entrant arrhythmias.
Patients present with palpitations and syncope from ventricular arrhythmias, or catastrophically with sudden cardiac death. Characteristic ECG findings include epsilon waves (small electrical deflections after QRS), low QRS voltages, and T wave inversions in anterior leads. Cardiac imaging shows right ventricular dilatation and regional wall motion abnormalities with intramural fat infiltration visible on cardiac MRI. Arrhythmias are often exercise-induced and may be exercise-triggered, making risk stratification critical. Progressive disease leads to biventricular involvement and congestive heart failure.
Common Symptoms of Arrhythmogenic Cardiomyopathy
Recognizing the signs of Arrhythmogenic Cardiomyopathy early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Palpitations and syncope from arrhythmias
- Epsilon waves on ECG
- Sudden cardiac death risk
- Progressive dyspnea and fatigue
- Right ventricular dysfunction on imaging
- Atrial fibrillation
Who Arrhythmogenic Cardiomyopathy Affects
Arrhythmogenic cardiomyopathy often manifests in adolescence or early adulthood with palpitations or syncope, though disease presentation varies considerably. Some individuals remain asymptomatic and are identified through family screening.
The condition affects males and females, though males are at notably higher risk for sudden cardiac death. Autosomal dominant inheritance is most common, with approximately 50% of offspring of affected parents inheriting mutations. Rare autosomal recessive forms exist, particularly in populations with consanguinity.
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Help Paying for Arrhythmogenic Cardiomyopathy Treatment
Charity funds and drugmaker programs for Arrhythmogenic Cardiomyopathy, checked at the source.
- From a charity · HealthWell FoundationCardiomyopathy (Medicare Access) fundOpen
Pays for: Copays, premiums or other treatment costs. Medicare patients only.
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Trusted Arrhythmogenic Cardiomyopathy Resources
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