Nova Mutação no Gene DSP – Um Caso de Cardiomiopatia Arritmogênica com Fenótipo Isolado do Ventrículo Esquerdo e Alto Risco de Morte Súbita

Sudden cardiac death (SCD) in young adults (18–35 years) most commonly results from previously undiagnosed inherited cardiomyopathies. The most common causes of sudden cardiac death are hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy (ACM), followed by congenital anomalies of coronary arteries, myocarditis, aortic rupture in Marfan's syndrome, conduction defects, and valve diseases.1 ACM accounts for up to 20% of sudden cardiac death in individuals under 35 years of age.2 In a series of 86 victims of SCD at a young age, ACM accounted for 10.3% of the cases, being the second major cause of SCD.3 Dilated cardiomyopathy (DCM) is a less frequent cause of SCD in young individuals, accounting for nearly 2% of cases in athletes.4 ACM is an inherited heart muscle disorder that results from fibrofatty infiltration of the ventricular myocardium.5 ACM is a genetically determined cardiomyopathy caused by mutations in genes encoding proteins of desmosomes, which are specialized intercellular structures.6 The current classification of ACM includes the classic arrhythmogenic right ventricular cardiomyopathy, biventricular disease variants, predominant left ventricular (LV) involvement, and the LV phenotype characterized by isolated LV involvement.7 The diagnosis of ACM is based on the modified Task Force Criteria (TFC) from 2010.8 However, these modified TFC lack sensitivity in the diagnosis of ACM with isolated or predominant LV involvement. Furthermore, differential diagnosis of ACM from other entities, such as DCM, sarcoidosis or myocarditis, may be challenging.