Genetic testing in a patient with suspected fulminant myocarditis revealed a heterozygous pathogenic variant in the PKP2 gene, providing definitive proof of arrhythmogenic cardiomyopathy.
Case Report (n=1)
No
Acute fulminant myocarditis can be the first clinical manifestation of arrhythmogenic cardiomyopathy, highlighting the diagnostic value of genetic testing when clinical and imaging features are ambiguous.
ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal dominant transmission and incomplete penetrance. The disease shows a wide spectrum of clinical manifestations, including ventricular arrhythmias, HF and myocarditis. The latter is considered a ‘hot phase’ in the natural history of the disease and must therefore be distinguished from the isolated AM, which is frequently due to viral infections. Our case report is an example of how an AM, as the first manifestation of the disease, helped to reach a diagnosis of ACM through the genetic analysis. In fact, the multi-parametric investigation, which also included CMR and EMB, revealed controversial aspects that led us to perform the genetic test. The latter revealed a heterozygous pathogenic variant in the PKP2 that was considered definitive proof of ACM.
Mistrulli et al. (Tue,) conducted a case report in Suspected fulminant myocarditis / Arrhythmogenic cardiomyopathy (n=1). Genetic testing was evaluated on Identification of pathogenic genetic variant. Genetic testing in a patient with suspected fulminant myocarditis revealed a heterozygous pathogenic variant in the PKP2 gene, providing definitive proof of arrhythmogenic cardiomyopathy.