Molecular Genetics and Metabolism Reports (Dec 2023)

The role of genetic testing in suspected fulminant myocarditis: A case report

  • Raffaella Mistrulli,
  • Caterina Micolonghi,
  • Federico Follesa,
  • Marco Fabiani,
  • Erika Pagannone,
  • Giulia D'Amati,
  • Carla Giordano,
  • Silvia Caroselli,
  • Camilla Savio,
  • Aldo Germani,
  • Antonio Pizzuti,
  • Vincenzo Visco,
  • Simona Petrucci,
  • Speranza Rubattu,
  • Maria Piane,
  • Camillo Autore

Journal volume & issue
Vol. 37
p. 101000

Abstract

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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.

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