Cardiomiopatia arritmogênica de ventrículo direito: uma revisão bibliográfica

Abstract

Arrhythmogenic Cardiomyopathy (ACM) configures a hereditary cardiac disorder characterized by progressive replacement of myocardium with fibroadipose tissue, predominantly in the right ventricle, affecting an estimated prevalence between 1:1000 to 1:5000 inhabitants. Mutations in desmosomal genes, particularly plakophilin-2 (PKP2), desmoglein-2 (DSG2), and desmocollin-2 (DSC2), determine dysfunction in cellular adhesion, resulting in myocyte death, adipose infiltration, and scar formation that create substrate for malignant ventricular arrhythmias. The disease manifests clinically with palpitations, syncope of arrhythmogenic origin, dyspnea on exertion, and sudden cardiac death, predominantly affecting young individuals and athletes. Diagnosis integrates electrocardiographic findings (epsilon waves and T-wave inversion in right precordial leads), cardiac magnetic resonance imaging (demonstrating fibroadipose infiltrate and late gadolinium enhancement), genetic testing, and revised Task Force criteria published in 2010, conferring superior diagnostic accuracy. Clinical evolution presents three distinct stages: the concealed stage, characterized by genetic-electrophysiologic alterations without manifest clinical symptoms; the arrhythmogenic stage, marked by palpitations, syncope, and documentation of ventricular arrhythmias; and the established cardiomyopathy stage, wherein progressive ventricular dilation and dysfunction occur with risk of heart failure. Therapeutic management articulates in individualized manner according to sudden cardiac death risk stratification of each patient, including restriction of intense and competitive physical activities as fundamental measure, use of beta-blockers or calcium channel blockers (verapamil) as first-line pharmacological therapy, implantation of implantable cardioverterdefibrillator (ICD) in high-risk patients for fatal events, catheter ablation for control of refractory arrhythmias, and in selected cases of advanced disease with severe biventricular dysfunction, cardiac transplantation. Systematized integration of clinical, electrocardiographic, imaging, electrophysiologic, and genetic findings optimizes early diagnosis, enables precise risk stratification, and directs appropriate therapeutic interventions aimed at preventing sudden cardiac death and improving quality of life in patients affected by this important arrhythmogenic syndrome.