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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia (ARVD), is a potentially life-threatening heart muscle disease that can cause sudden cardiac death in young persons and athletes. ARVC is a disorder of the cardiac desmosome – protein complexes that maintain cell-to-cell connections and provide mechanical attachments among adjacent cells. Myocyte death and replacement by fat and fibrous tissue in the right ventricle are the pathologic hallmarks of the disease, which may predispose to ventricular tachyarrhythmia and sudden cardiac death. The disease prevalence is estimated at 1:1000 to 1:2500, but may be higher in certain populations and because of non-diagnosed or misdiagnosed cases. Patients with ARVC typically develop symptoms between the second and fifth decade of life (mean age at diagnosis 31 years), however onset and severity are widely variable.
The most common presenting symptoms of ARVC are heart palpitations, syncope, and sudden cardiac death. Many patients may be asymptomatic and diagnosed by routine electrocardiogram (ECG). Diagnosis is based on clinical findings, a combination of noninvasive and invasive testing, and family history. Diagnostic criteria were established by McKenna et al in 1994 and revised in 20104,5. The diagnostic approach includes the collection of various types of diagnostic information, including genetic, electrocardiographic, structural, and functional findings.