Evidence map›Paper›PMID 37662494›Full record

ArticleMolecular genetics and metabolism reports2023

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 and 6 more

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In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

16 authors at 5 institutions in 1 country.

Raffaella MistrulliDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Caterina MicolonghiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Federico FollesaDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Marco FabianiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Erika PagannoneDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Giulia D'AmatiDepartment of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy.
Carla GiordanoDepartment of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy.
Silvia CaroselliReproductive Genetics, Juno Genetics, 00188 Rome, Italy.
Camilla SavioS. Andrea University Hospital, 00189 Rome, Italy.
Aldo GermaniDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Antonio PizzutiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Vincenzo ViscoDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Simona PetrucciDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Speranza RubattuDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Maria PianeDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Camillo AutoreSan Raffaele Cassino, 03043, Italy.
Sapienza University of Rome · ITALTA (Italy) · ITCasa Sollievo della Sofferenza · ITCTO Andrea Alesini · ITUniversità degli studi di Cassino e del Lazio Meridionale · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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

Indexed as

Acute myocarditisArrhythmogenic cardiomyopathyBiopsyGeneticsPKP2

Identifiers

PMID37662494
PMCPMC10470308
OpenAlexW4386062526

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.