Inherited isolated arrhythmogenic cardiomyopathy

Inherited isolated arrhythmogenic cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia (ARVD), is a genetic heart muscle disease characterized by progressive replacement of the heart muscle (myocardium) with fatty and fibrous tissue. This process primarily affects the right ventricle, though biventricular and left-dominant forms are increasingly recognized. The structural changes in the heart create an unstable electrical environment, predisposing affected individuals to potentially life-threatening ventricular arrhythmias, including ventricular tachycardia and ventricular fibrillation. ACM is a significant cause of sudden cardiac death, particularly in young people and athletes. The disease is caused by mutations in genes encoding desmosomal proteins — the structures that hold heart muscle cells together. The most commonly implicated genes include PKP2 (plakophilin-2), DSP (desmoplakin), DSG2 (desmoglein-2), DSC2 (desmocollin-2), and JUP (junction plakoglobin). Key symptoms include palpitations, syncope (fainting), dizziness, and exercise intolerance. Some patients may be asymptomatic until a serious arrhythmic event occurs. Symptoms often manifest during adolescence or early adulthood and may be triggered or worsened by vigorous physical exercise. Heart failure may develop as the disease progresses. There is currently no cure for arrhythmogenic cardiomyopathy. Treatment focuses on reducing the risk of sudden cardiac death and managing symptoms. This includes restriction of intense physical activity, antiarrhythmic medications (such as beta-blockers, sotalol, or amiodarone), implantable cardioverter-defibrillators (ICDs) for those at high risk of sudden death, and catheter ablation for recurrent ventricular tachycardia. In advanced cases with refractory heart failure, heart transplantation may be considered. Genetic testing and cascade screening of family members are recommended to identify at-risk relatives who may benefit from surveillance and preventive measures.

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