Key result
A 35-year-old male presenting with palpitations and a history of presumed acute myocarditis was diagnosed with arrhythmogenic left ventricular cardiomyopathy due to a pathogenic desmoplakin mutation.
Case Report (n=1)
DSP gene mutations can cause arrhythmogenic left ventricular cardiomyopathy presenting with 'hot phases' that mimic acute myocarditis, underscoring the value of genetic testing in patients with recurrent myocardial inflammation.
May support genetic testing in recurrent myocarditis-like presentations; leaves open prospective validation for DSP cardiomyopathy.
A 35-year-old male, with a medical history of acute myocarditis, presented with palpitations. Further investigation revealed non-sustained ventricular tachycardia and a slightly reduced left ventricular systolic function. Cardiac magnetic resonance showed extended late gadolinium enhancement of the left ventricle and fat infiltration. Genetic testing was positive for a pathogenic desmoplakin mutation, fulfilling the criteria of arrhythmogenic left ventricular cardiomyopathy. In conclusion, the authors described a case of a mimicked acute myocarditis at a young age in a patient with an arrhythmogenic left ventricular cardiomyopathy. Therefore, the genetic study is essential for both diagnosis and management.
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Cabral et al. (2023) conducted a case report in Arrhythmogenic left ventricular cardiomyopathy (n=1). A 35-year-old male presenting with palpitations and a history of presumed acute myocarditis was diagnosed with arrhythmogenic left ventricular cardiomyopathy due to a pathogenic desmoplakin mutation.
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