Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101000, Article 101000

Ort / Verlag

Elsevier

Erscheinungsjahr

2023

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.