Arrhythmogenic right ventricular cardiomyopathy: Clinical presentation, diagnosis, and management

摘要: Arrhythmogenic right ventricular cardiomyopathy, also known as dysplasia, is a genetically determined heart muscle disease associated with arrhythmia, failure, and sudden death. Autosomal dominant inheritance typical. The identification of causative mutations in cell adhesion proteins has shed new light on its pathogenesis. Fibrofatty replacement the myocardium, hallmark pathologic feature, may be response to injury caused by myocyte detachment. Sudden death often first manifestation probands, emphasizing importance evaluating asymptomatic relatives for disease. Standardized guidelines facilitate clinical diagnosis dysplasia. However, familial studies have highlighted need broaden diagnostic criteria, which are highly specific but lack sensitivity early Modifications been proposed dysplasia relatives. Early characterized "concealed phase" electrocardiographic imaging abnormalities absent, patients nonetheless at risk arrhythmic events. Detection this stage remains challenge, underscoring potential value mutation analysis identifying affected persons. Serial evaluation suspected recommended features develop during follow-up period. onset symptoms such palpitation or syncope herald an active phase previously quiescent disease, increased Greater awareness among physicians judicious use implantable cardioverter-defibrillators help prevent unnecessary deaths.