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Case Reports
. 2023 Aug 22:37:101000.
doi: 10.1016/j.ymgmr.2023.101000. eCollection 2023 Dec.

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

Raffaella Mistrulli  1 , Caterina Micolonghi  2 , Federico Follesa  1 , Marco Fabiani  2   3 , Erika Pagannone  1 , Giulia D'Amati  4 , Carla Giordano  4 , Silvia Caroselli  5 , Camilla Savio  6 , Aldo Germani  1 , Antonio Pizzuti  2   7 , Vincenzo Visco  1 , Simona Petrucci  1   7 , Speranza Rubattu  1   8 , Maria Piane  1 , Camillo Autore  9
Affiliations
Case Reports

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

Raffaella Mistrulli et al. Mol Genet Metab Rep. .

Abstract

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.

Keywords: Acute myocarditis; Arrhythmogenic cardiomyopathy; Biopsy; Genetics; PKP2.

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Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Cardiac magnetic resonance imaging studies. A. CMR of the patient at admission, showing an extensive oedema at T2 sequences at the mid and apical segments of the lateral and inferior walls. The initial LVEF was 25%. B-C. Follow-up CMR showing the absence of oedema in the T2 sequences (B) and a multifocal subepicardial LGE within the lateral wall, as indicated by the arrow (C).
Fig. 2
Fig. 2
A. EMB showing an increased interstitial cellularity and areas of fibro-adipose myocardial replacement (hematoxylin-eosin, original magnification 10X). B. A small cluster of T lymphocytes (CD3 immunostaining, original magnification 40X). C. Groups of interstitial macrophages (CD68 immunostaining, original magnification 40X).
Fig. 3
Fig. 3
Twelve‑lead ECG at follow-up. Of note, low voltages were present in the peripheral leads, and negative T-waves were present from V3 -V6 leads.
See this image and copyright information in PMC

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