PMID- 32301586
OWN - NLM
STAT- MEDLINE
DCOM- 20210621
LR  - 20220531
IS  - 2055-5822 (Electronic)
IS  - 2055-5822 (Linking)
VI  - 7
IP  - 3
DP  - 2020 Jun
TI  - Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene 
      variant.
PG  - 1210-1216
LID - 10.1002/ehf2.12658 [doi]
AB  - Myocarditis most often affects otherwise healthy athletes and is one of the 
      leading causes of sudden death in children and young adults. Arrhythmogenic right 
      ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle 
      disorder with increased risk for paroxysmal ventricular arrhythmias and sudden 
      cardiac death. The clinical picture of myocarditis and ARVC may overlap during 
      the early stages of cardiomyopathy, which may lead to misdiagnosis. In the 
      literature, we found several cases that presented with episodes of myocarditis 
      and ended up with a diagnosis of arrhythmogenic cardiomyopathy, mostly of the 
      left predominant type. The aim of this case presentation is to shed light upon a 
      possible link between myocarditis, a desmoplakin (DSP) gene variant, and ARVC by 
      describing a case of male monozygotic twins who presented with symptoms and signs 
      of myocarditis at 17 and 18 years of age, respectively. One of them also had a 
      recurrent episode of myocarditis. The twins and their family were extensively 
      examined including electrocardiograms (ECG), biochemistry, multimodal cardiac 
      imaging, myocardial biopsy, genetic analysis, repeated cardiac magnetic resonance 
      (CMR) and echocardiography over time. Both twins presented with chest pain, ECG 
      with slight ST-T elevation, and increased troponin T levels. CMR demonstrated an 
      affected left ventricle with comprehensive inflammatory, subepicardial changes 
      consistent with myocarditis. The right ventricle did not appear to have any 
      abnormalities. Genotype analysis revealed a nonsense heterozygous variant in the 
      desmoplakin (DSP) gene [NM_004415.2:c.2521_2522del (p.Gln841Aspfs*9)] that is 
      considered likely pathogenic and presumably ARVC related. There was no previous 
      family history of heart disease. There might be a common pathophysiology of ARVC, 
      associated with desmosomal dysfunction, and myocarditis. In our case, both twins 
      have an affected left ventricle without any right ventricular involvement, and 
      they are carriers of a novel DSP variant that is likely associated with ARVC. The 
      extensive inflammation of the LV that was apparent in the CMR may or may not be 
      the primary event of ARVC. Nevertheless, our data suggest that irrespective of a 
      possible link here to ARVC, genetic testing for arrhythmogenic cardiomyopathy 
      might be advisable for patients with recurrent myocarditis associated with a 
      family history of myocarditis.
CI  - (c) 2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on 
      behalf of European Society of Cardiology.
FAU - Kissopoulou, Antheia
AU  - Kissopoulou A
AD  - Department of Internal Medicine, County Council of Jonkoping, Jonkoping, Sweden.
AD  - Department of Health, Medicine and Caring Sciences, Linkoping University, 
      Linkoping, Sweden.
FAU - Fernlund, Eva
AU  - Fernlund E
AD  - Crown Princess Victoria Children's Hospital, Division of Pediatrics, Department 
      of Biomedical and Clinical Sciences, Linkoping University, Linkoping University 
      Hospital, Linkoping, Sweden.
AD  - Department of Clinical Sciences Lund, Pediatric Heart Center, Lund University, 
      Skane University Hospital, Lund, Sweden.
FAU - Holmgren, Christina
AU  - Holmgren C
AD  - Department of Internal Medicine, County Council of Jonkoping, Jonkoping, Sweden.
AD  - Department of Health, Medicine and Caring Sciences, Linkoping University, 
      Linkoping, Sweden.
FAU - Isaksson, Eira
AU  - Isaksson E
AD  - Department of Internal Medicine, County Council of Jonkoping, Jonkoping, Sweden.
AD  - Department of Health, Medicine and Caring Sciences, Linkoping University, 
      Linkoping, Sweden.
FAU - Karlsson, Jan-Erik
AU  - Karlsson JE
AD  - Department of Internal Medicine, County Council of Jonkoping, Jonkoping, Sweden.
AD  - Department of Health, Medicine and Caring Sciences, Linkoping University, 
      Linkoping, Sweden.
FAU - Green, Henrik
AU  - Green H
AD  - Division of Drug Research, Department of Health, Medicine and Caring Sciences, 
      Linkoping University, Linkoping, Sweden.
AD  - Department of Forensic Genetics and Forensic Toxicology, National Board of 
      Forensic Medicine, Linkoping, Sweden.
FAU - Jonasson, Jon
AU  - Jonasson J
AD  - Department of Clinical Genetics and Department of Biomedical and Clinical 
      Sciences, Linkoping University, Linkoping, Sweden.
FAU - Ellegard, Rada
AU  - Ellegard R
AD  - Department of Clinical Genetics and Department of Biomedical and Clinical 
      Sciences, Linkoping University, Linkoping, Sweden.
FAU - Arstrand, Hanna Klang
AU  - Arstrand HK
AD  - Department of Clinical Genetics and Department of Biomedical and Clinical 
      Sciences, Linkoping University, Linkoping, Sweden.
FAU - Svensson, Anneli
AU  - Svensson A
AD  - Department of Cardiology, Department of Health, Medicine and Caring Sciences, 
      Linkoping University, Linkoping, Sweden.
FAU - Gunnarsson, Cecilia
AU  - Gunnarsson C
AD  - Department of Clinical Genetics and Department of Biomedical and Clinical 
      Sciences, Linkoping University, Linkoping, Sweden.
AD  - Centre for Rare Diseases in South East Region of Sweden, Linkoping University, 
      Linkoping, Sweden.
LA  - eng
GR  - Futurum/International
GR  - FORSS/International
GR  - Region Ostergotland/International
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200417
PL  - England
TA  - ESC Heart Fail
JT  - ESC heart failure
JID - 101669191
RN  - 0 (Desmoplakins)
SB  - IM
MH  - Adolescent
MH  - *Arrhythmogenic Right Ventricular Dysplasia/diagnosis/genetics
MH  - Desmoplakins/genetics
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - *Myocarditis/complications/diagnosis/genetics
MH  - Twins, Monozygotic
PMC - PMC7261567
OTO - NOTNLM
OT  - Arrhytmogenic cardiomyopathy
OT  - Desmoplakin gene
OT  - Myocarditis
COIS- None declared.
EDAT- 2020/04/18 06:00
MHDA- 2021/06/22 06:00
PMCR- 2020/04/17
CRDT- 2020/04/18 06:00
PHST- 2019/11/16 00:00 [received]
PHST- 2020/01/23 00:00 [revised]
PHST- 2020/02/06 00:00 [accepted]
PHST- 2020/04/18 06:00 [pubmed]
PHST- 2021/06/22 06:00 [medline]
PHST- 2020/04/18 06:00 [entrez]
PHST- 2020/04/17 00:00 [pmc-release]
AID - EHF212658 [pii]
AID - 10.1002/ehf2.12658 [doi]
PST - ppublish
SO  - ESC Heart Fail. 2020 Jun;7(3):1210-1216. doi: 10.1002/ehf2.12658. Epub 2020 Apr 
      17.