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SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy

Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The c...

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Autores principales: Dumitru, Irina Magdalena, Vlad, Nicoleta Dorina, Rugina, Sorin, Onofrei, Nicoleta, Gherca, Sabina, Raduna, Marian, Trana, Aurel, Dumitrascu, Mirela, Popovici, Elena, Bajdechi, Mircea, Zekra, Lucia, Cernat, Roxana Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306179/
https://www.ncbi.nlm.nih.gov/pubmed/34356086
http://dx.doi.org/10.3390/genes12071070
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author Dumitru, Irina Magdalena
Vlad, Nicoleta Dorina
Rugina, Sorin
Onofrei, Nicoleta
Gherca, Sabina
Raduna, Marian
Trana, Aurel
Dumitrascu, Mirela
Popovici, Elena
Bajdechi, Mircea
Zekra, Lucia
Cernat, Roxana Carmen
author_facet Dumitru, Irina Magdalena
Vlad, Nicoleta Dorina
Rugina, Sorin
Onofrei, Nicoleta
Gherca, Sabina
Raduna, Marian
Trana, Aurel
Dumitrascu, Mirela
Popovici, Elena
Bajdechi, Mircea
Zekra, Lucia
Cernat, Roxana Carmen
author_sort Dumitru, Irina Magdalena
collection PubMed
description Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD).
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spelling pubmed-83061792021-07-25 SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy Dumitru, Irina Magdalena Vlad, Nicoleta Dorina Rugina, Sorin Onofrei, Nicoleta Gherca, Sabina Raduna, Marian Trana, Aurel Dumitrascu, Mirela Popovici, Elena Bajdechi, Mircea Zekra, Lucia Cernat, Roxana Carmen Genes (Basel) Case Report Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD). MDPI 2021-07-14 /pmc/articles/PMC8306179/ /pubmed/34356086 http://dx.doi.org/10.3390/genes12071070 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Dumitru, Irina Magdalena
Vlad, Nicoleta Dorina
Rugina, Sorin
Onofrei, Nicoleta
Gherca, Sabina
Raduna, Marian
Trana, Aurel
Dumitrascu, Mirela
Popovici, Elena
Bajdechi, Mircea
Zekra, Lucia
Cernat, Roxana Carmen
SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title_full SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title_fullStr SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title_full_unstemmed SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title_short SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy
title_sort sars-cov-2 infection and emery-dreifuss syndrome in a young patient with a family history of dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306179/
https://www.ncbi.nlm.nih.gov/pubmed/34356086
http://dx.doi.org/10.3390/genes12071070
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