Thaís Martins de Oliveira et al. Fernando Luis Scolari Fabiano de Oliveira Poswar Francine Hehn de Oliveira … Ricardo Stein Lívia Adams Goldraich
Introduction
Etiological identification of young patients with heart failure should always be a medical goal. In this scenario, infectious myocarditis is a possible diagnosis and, when it occurs, it has a benign course in the majority of cases. However, congenital heart diseases or familial forms of cardiomyopathy should be considered in differential diagnosis and/or concomitantly, particularly in more severe presentations of myocarditis. In these cases, in addition to specific investigation for myocarditis, which may include clinical evaluation, imaging exams, laboratory tests, and endomyocardial biopsy with viral agent testing in myocardial tissue, genetic study is also worth considering. Associated etiologies can have an impact on clinical presentation and evolution, but data are still scarce, which means that there is still a gap to be explored in the literature. In this report, we describe the case of a young man with cardiogenic shock secondary to myocarditis caused by Epstein Barr virus (EBV), which led to identification of a pathogenic mutation in the PKP2 gene.
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