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

dc.contributor.authorRaffaella Mistrulli
dc.contributor.authorCaterina Micolonghi
dc.contributor.authorFederico Follesa
dc.contributor.authorMarco Fabiani
dc.contributor.authorErika Pagannone
dc.contributor.authorGiulia D'Amati
dc.contributor.authorCarla Giordano
dc.contributor.authorSilvia Caroselli
dc.contributor.authorCamilla Savio
dc.contributor.authorAldo Germani
dc.contributor.authorAntonio Pizzuti
dc.contributor.authorVincenzo Visco
dc.contributor.authorSimona Petrucci
dc.contributor.authorSperanza Rubattu
dc.contributor.authorMaria Piane
dc.contributor.authorCamillo Autore
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy; ALTAMEDICA, Human Genetics, 00198 Rome, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherDepartment of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy
dc.contributor.otherDepartment of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy
dc.contributor.otherReproductive Genetics, Juno Genetics, 00188 Rome, Italy
dc.contributor.otherS. Andrea University Hospital, 00189 Rome, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy; IRCCS Neuromed, Pozzilli, IS 86077, Italy; Corresponding author at: Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
dc.contributor.otherDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
dc.contributor.otherSan Raffaele Cassino, 03043, Italy
dc.date.accessioned2023-08-23T04:33:21Z
dc.date.available2025-10-02T04:35:25Z
dc.date.issued01-12-2023
dc.identifier.issn-
dc.identifier.urihttp://www.sciencedirect.com/science/article/pii/S2214426923000460
dc.description.abstractACM 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.
dc.format-
dc.language.isoEN
dc.publisherElsevier
dc.relation.uri['https://www.journals.elsevier.com/intelligent-systems-with-applications', 'https://www.elsevier.com/journals/intelligent-systems-with-applications/2667-3053/guide-for-authors', 'https://www.elsevier.com/authors/open-access/choice#waivers']
dc.rights['CC BY', 'CC BY-NC-ND', 'CC BY-NC']
dc.subject['intelligent systems', 'machine learning', 'neural computing', 'evolutionary computation', 'fuzzy systems', 'intelligent control and robotics', 'Cybernetics', 'Q300-390', 'Electronic computers. Computer science', 'QA75.5-76.95']
dc.subject.lccMedicine (General)
dc.titleThe role of genetic testing in suspected fulminant myocarditis: A case report
dc.typeArticle
dc.description.keywordsArrhythmogenic cardiomyopathy
dc.description.keywordsAcute myocarditis
dc.description.keywordsBiopsy
dc.description.keywordsGenetics
dc.description.keywordsPKP2
dc.description.pages-
dc.description.doi10.1016/j.ymgmr.2023.101000
dc.title.journalMolecular Genetics and Metabolism Reports
dc.identifier.e-issn2214-4269
dc.identifier.oaioai:doaj.org/journal:1570d952ccfc4e99adcd87a46f53fd2b
dc.journal.info-


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