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Myopathic Cardiac Genotypes Increase Risk for Myocarditis

Impairments in certain cardiac genes confer risk for myocarditis in children. To determine the extent of this association, we performed genomic sequencing in predominantly adult patients with acute myocarditis and matched control subjects. Putatively deleterious variants in a broad set of cardiac ge...

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Autores principales: Kontorovich, Amy R., Patel, Nihir, Moscati, Arden, Richter, Felix, Peter, Inga, Purevjav, Enkhsaikhan, Selejan, Simina Ramona, Kindermann, Ingrid, Towbin, Jeffrey A., Bohm, Michael, Klingel, Karin, Gelb, Bruce D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326270/
https://www.ncbi.nlm.nih.gov/pubmed/34368507
http://dx.doi.org/10.1016/j.jacbts.2021.06.001
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author Kontorovich, Amy R.
Patel, Nihir
Moscati, Arden
Richter, Felix
Peter, Inga
Purevjav, Enkhsaikhan
Selejan, Simina Ramona
Kindermann, Ingrid
Towbin, Jeffrey A.
Bohm, Michael
Klingel, Karin
Gelb, Bruce D.
author_facet Kontorovich, Amy R.
Patel, Nihir
Moscati, Arden
Richter, Felix
Peter, Inga
Purevjav, Enkhsaikhan
Selejan, Simina Ramona
Kindermann, Ingrid
Towbin, Jeffrey A.
Bohm, Michael
Klingel, Karin
Gelb, Bruce D.
author_sort Kontorovich, Amy R.
collection PubMed
description Impairments in certain cardiac genes confer risk for myocarditis in children. To determine the extent of this association, we performed genomic sequencing in predominantly adult patients with acute myocarditis and matched control subjects. Putatively deleterious variants in a broad set of cardiac genes were found in 19 of 117 acute myocarditis cases vs 34 of 468 control subjects (P = 0.003). Thirteen genes classically associated with cardiomyopathy or neuromuscular disorders with cardiac involvement were implicated, including >1 associated damaging variant in DYSF, DSP, and TTN. Phenotypes of subjects who have acute myocarditis with or without deleterious variants were similar, indicating that genetic testing is necessary to differentiate them.
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spelling pubmed-83262702021-08-06 Myopathic Cardiac Genotypes Increase Risk for Myocarditis Kontorovich, Amy R. Patel, Nihir Moscati, Arden Richter, Felix Peter, Inga Purevjav, Enkhsaikhan Selejan, Simina Ramona Kindermann, Ingrid Towbin, Jeffrey A. Bohm, Michael Klingel, Karin Gelb, Bruce D. JACC Basic Transl Sci Clinical Research Impairments in certain cardiac genes confer risk for myocarditis in children. To determine the extent of this association, we performed genomic sequencing in predominantly adult patients with acute myocarditis and matched control subjects. Putatively deleterious variants in a broad set of cardiac genes were found in 19 of 117 acute myocarditis cases vs 34 of 468 control subjects (P = 0.003). Thirteen genes classically associated with cardiomyopathy or neuromuscular disorders with cardiac involvement were implicated, including >1 associated damaging variant in DYSF, DSP, and TTN. Phenotypes of subjects who have acute myocarditis with or without deleterious variants were similar, indicating that genetic testing is necessary to differentiate them. Elsevier 2021-07-26 /pmc/articles/PMC8326270/ /pubmed/34368507 http://dx.doi.org/10.1016/j.jacbts.2021.06.001 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Clinical Research
Kontorovich, Amy R.
Patel, Nihir
Moscati, Arden
Richter, Felix
Peter, Inga
Purevjav, Enkhsaikhan
Selejan, Simina Ramona
Kindermann, Ingrid
Towbin, Jeffrey A.
Bohm, Michael
Klingel, Karin
Gelb, Bruce D.
Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title_full Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title_fullStr Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title_full_unstemmed Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title_short Myopathic Cardiac Genotypes Increase Risk for Myocarditis
title_sort myopathic cardiac genotypes increase risk for myocarditis
topic Clinical Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326270/
https://www.ncbi.nlm.nih.gov/pubmed/34368507
http://dx.doi.org/10.1016/j.jacbts.2021.06.001
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