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A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis
BACKGROUND: Clinical features and imaging presentation of myocarditis can overlap with other inflammatory or arrhythmogenic cardiomyopathies. Desmoplakin (DSP) is an important structural cardiac protein. Mutations in the DSP gene are associated with a variant of arrhythmogenic right ventricular card...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9384800/ https://www.ncbi.nlm.nih.gov/pubmed/36043215 http://dx.doi.org/10.1093/ehjcr/ytac341 |
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author | Rezaei Bookani, Kaveh Minga, Iva Wodskow, Joshua Harris, Jordan Gordon, Robert Sarswat, Nitasha Pursnani, Amit |
author_facet | Rezaei Bookani, Kaveh Minga, Iva Wodskow, Joshua Harris, Jordan Gordon, Robert Sarswat, Nitasha Pursnani, Amit |
author_sort | Rezaei Bookani, Kaveh |
collection | PubMed |
description | BACKGROUND: Clinical features and imaging presentation of myocarditis can overlap with other inflammatory or arrhythmogenic cardiomyopathies. Desmoplakin (DSP) is an important structural cardiac protein. Mutations in the DSP gene are associated with a variant of arrhythmogenic right ventricular cardiomyopathy (ARVC). Interestingly, this distinct genetic cardiomyopathy can also present with a myocardial inflammation and fibrosis pattern that may mimic other forms of myocarditis including viral myocarditis, which can raise a clinical challenge. We report two cases of DSP cardiomyopathy, which were initially thought to represent coronavirus disease of 2019 (COVID-19) myocarditis. CASE SUMMARY: First patient is a 21-your-old woman with no past medical history but family history of presumed ‘viral myocarditis’ and ventricular tachycardia in her brother. She presented with acute chest pain and elevated cardiac enzymes. She tested positive for COVID-19 and given the suspicion for possible COVID-19 related acute myocarditis, cardiac magnetic resonance imaging obtained and revealed regional wall motion abnormalities, several areas of subepicardial and pericardial late gadolinium enhancement (LGE). Ambulatory cardiac monitoring showed runs of non-sustained ventricular tachycardia and considering her family history of arrhythmogenic myocarditis, genetic testing was performed that was positive for a likely pathogenic heterozygous mutation of DSP gene. She declined the recommended implantable cardioverter defibrillator (ICD). Second patient is a 34-year-old physician with no significant past medical history who works at a COVID-19 unit and presented with syncope and was found to have ventricular tachycardia. Echocardiogram revealed severely dilated left ventricle and globally depressed systolic function with left ventricular ejection fraction of 20%. Coronary computed tomography angiography showed no evidence of coronary atherosclerosis. Cardiac magnetic resonance imaging revealed several areas of mid myocardial and pericardial LGE. Subcutaneous ICD was implanted and an endomyocardial biopsy had evidence of lymphocytic myocarditis and adipose tissue infiltration of the myocardium. Genetic testing revealed pathogenic heterozygous DSP mutation. He underwent epicardial ablation for the episodes of ventricular tachycardia despite medical therapy. He was able to return to work and has not had any further episodes of arrhythmia. CONCLUSION: Mutations in the DSP gene are associated with left dominant arrhythmogenic cardiomyopathy, which is a variant of ARVC. Beside left ventricular systolic dysfunction and ventricular tachyarrhythmias, carriers of these mutations may present with episodes of chest pain associated with elevated cardiac enzymes and cardiac imaging findings indistinguishable from other forms of acute myocarditis including viral myocarditis. Currently, there are no guidelines for diagnosis and treatment of this entity. |
format | Online Article Text |
id | pubmed-9384800 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-93848002022-08-18 A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis Rezaei Bookani, Kaveh Minga, Iva Wodskow, Joshua Harris, Jordan Gordon, Robert Sarswat, Nitasha Pursnani, Amit Eur Heart J Case Rep Case Series BACKGROUND: Clinical features and imaging presentation of myocarditis can overlap with other inflammatory or arrhythmogenic cardiomyopathies. Desmoplakin (DSP) is an important structural cardiac protein. Mutations in the DSP gene are associated with a variant of arrhythmogenic right ventricular cardiomyopathy (ARVC). Interestingly, this distinct genetic cardiomyopathy can also present with a myocardial inflammation and fibrosis pattern that may mimic other forms of myocarditis including viral myocarditis, which can raise a clinical challenge. We report two cases of DSP cardiomyopathy, which were initially thought to represent coronavirus disease of 2019 (COVID-19) myocarditis. CASE SUMMARY: First patient is a 21-your-old woman with no past medical history but family history of presumed ‘viral myocarditis’ and ventricular tachycardia in her brother. She presented with acute chest pain and elevated cardiac enzymes. She tested positive for COVID-19 and given the suspicion for possible COVID-19 related acute myocarditis, cardiac magnetic resonance imaging obtained and revealed regional wall motion abnormalities, several areas of subepicardial and pericardial late gadolinium enhancement (LGE). Ambulatory cardiac monitoring showed runs of non-sustained ventricular tachycardia and considering her family history of arrhythmogenic myocarditis, genetic testing was performed that was positive for a likely pathogenic heterozygous mutation of DSP gene. She declined the recommended implantable cardioverter defibrillator (ICD). Second patient is a 34-year-old physician with no significant past medical history who works at a COVID-19 unit and presented with syncope and was found to have ventricular tachycardia. Echocardiogram revealed severely dilated left ventricle and globally depressed systolic function with left ventricular ejection fraction of 20%. Coronary computed tomography angiography showed no evidence of coronary atherosclerosis. Cardiac magnetic resonance imaging revealed several areas of mid myocardial and pericardial LGE. Subcutaneous ICD was implanted and an endomyocardial biopsy had evidence of lymphocytic myocarditis and adipose tissue infiltration of the myocardium. Genetic testing revealed pathogenic heterozygous DSP mutation. He underwent epicardial ablation for the episodes of ventricular tachycardia despite medical therapy. He was able to return to work and has not had any further episodes of arrhythmia. CONCLUSION: Mutations in the DSP gene are associated with left dominant arrhythmogenic cardiomyopathy, which is a variant of ARVC. Beside left ventricular systolic dysfunction and ventricular tachyarrhythmias, carriers of these mutations may present with episodes of chest pain associated with elevated cardiac enzymes and cardiac imaging findings indistinguishable from other forms of acute myocarditis including viral myocarditis. Currently, there are no guidelines for diagnosis and treatment of this entity. Oxford University Press 2022-08-16 /pmc/articles/PMC9384800/ /pubmed/36043215 http://dx.doi.org/10.1093/ehjcr/ytac341 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Series Rezaei Bookani, Kaveh Minga, Iva Wodskow, Joshua Harris, Jordan Gordon, Robert Sarswat, Nitasha Pursnani, Amit A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title | A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title_full | A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title_fullStr | A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title_full_unstemmed | A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title_short | A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
title_sort | case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9384800/ https://www.ncbi.nlm.nih.gov/pubmed/36043215 http://dx.doi.org/10.1093/ehjcr/ytac341 |
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