Myopathic Cardiac Genotypes Increase Risk for Myocarditis

被引：60

作者：

Kontorovich, Amy R. ^{[1
,2
]}

Patel, Nihir ^{[2
,3
]}

Moscati, Arden ^{[5
]}

Richter, Felix ^{[2
]}

Peter, Inga ^{[3
]}

Purevjav, Enkhsaikhan ^{[6
]}

Selejan, Simina Ramona ^{[8
]}

Kindermann, Ingrid ^{[8
]}

Towbin, Jeffrey A. ^{[6
]}

Bohm, Michael ^{[8
]}

Klingel, Karin ^{[7
]}

Gelb, Bruce D. ^{[2
,3
,4
]}

机构：

[1] Icahn Sch Med Mt Sinai, Zena & Michael A Weiner Cardiovasc Inst, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA

[3] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[4] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA

[5] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA

[6] Univ Tennessee, Dept Pediat, Hlth Sci Ctr, Memphis, TN USA

[7] Univ Hosp Tuebingen, Cardiopathol, Inst Pathol & Neuropathol, Tubingen, Germany

[8] Saarland Univ, Saarland Univ Med Ctr, Dept Internal Med 3, Cardiol Angiol & Intens Care, Homburg, Germany

来源：

JACC-BASIC TO TRANSLATIONAL SCIENCE | 2021年 / 6卷 / 07期

基金：

美国国家卫生研究院;

关键词：

acute myocarditis; cardiomyopathy; genetics; POLYMERASE-CHAIN-REACTION; PERIPARTUM CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; GENETIC PREDISPOSITION; CYTOSKELETAL PROTEINS; MUTATIONS; COMMON; HEART; DYSTROPHIN; VIRUSES;

D O I：

10.1016/j.jacbts.2021.06.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2021 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.

引用

页码：584 / 592

页数：9

共 42 条

[1] Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis Highlights From Genetic Testing [J].

Ader, Flavie ;

Surget, Elodie ;

Charron, Philippe ;

Redheuil, Alban ;

Zouaghi, Amir ;

Maltret, Alice ;

Marijon, Eloi ;

Denjoy, Isabelle ;

Hermida, Alexis ;

Fressart, Veronique ;

Gandjbakhch, Estelle .

CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (04) :E002744

[2]

Altman DG., 1996, PRACTICAL STAT MED R, V7th

[3] Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy [J].

Badorff, C ;

Lee, GH ;

Lamphear, BJ ;

Martone, ME ;

Campbell, KP ;

Rhoads, RE ;

Knowlton, KU .

NATURE MEDICINE, 1999, 5 (03) :320-326

[4] Selenium and vitamin E status: Impact on viral pathogenicity [J].

Beck, Melinda A. .

JOURNAL OF NUTRITION, 2007, 137 (05) :1338-1340

[5] Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis [J].

Belkaya, Serkan ;

Kontorovich, Amy R. ;

Byun, Minji ;

Mulero-Navarro, Sonia ;

Bajolle, Fanny ;

Cobat, Aurelie ;

Josowitz, Rebecca ;

Itan, Yuval ;

Quint, Raphaelle ;

Lorenzo, Lazaro ;

Boucherit, Soraya ;

Stoven, Cecile ;

Di Filippo, Sylvie ;

Abel, Laurent ;

Zhang, Shen-Ying ;

Bonnet, Damien ;

Gelb, Bruce D. ;

Casanova, Jean-Laurent .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 69 (13) :1653-1665

[6] Detection of viruses in myocardial tissues by polymerase chain reaction: Evidence of adenovirus as a common cause of myocarditis in children and adults [J].

Bowles, NE ;

Ni, JY ;

Kearney, DL ;

Pauschinger, M ;

Schultheiss, HP ;

McCarthy, R ;

Hare, J ;

Bricker, JT ;

Bowles, KR ;

Towbin, JA .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 42 (03) :466-472

[7] The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy [J].

Bowles, NE ;

Ni, JY ;

Marcus, F ;

Towbin, JA .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (05) :892-895

[8] The "final common pathway" hypothesis and inherited cardiovascular disease - The role of cytoskeletal proteins in dilated cardiomyopathy [J].

Bowles, NE ;

Bowles, KR ;

Towbin, JA .

HERZ, 2000, 25 (03) :168-175

[9] Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis [J].

Brown, Emily E. ;

McMilllan, Kristen Nelson ;

Halushka, Marc K. ;

Ravekes, William J. ;

Knight, Margaret ;

Crosson, Jane E. ;

Judge, Daniel P. ;

Murphy, Anne M. .

CARDIOLOGY IN THE YOUNG, 2019, 29 (07) :917-921

[10] Early Detection of Anthracycline Cardiotoxicity and Improvement With Heart Failure Therapy [J].

Cardinale, Daniela ;

Colombo, Alessandro ;

Bacchiani, Giulia ;

Tedeschi, Ines ;

Meroni, Carlo A. ;

Veglia, Fabrizio ;

Civelli, Maurizio ;

Lamantia, Giuseppina ;

Colombo, Nicola ;

Curigliano, Giuseppe ;

Fiorentini, Cesare ;

Cipolla, Carlo M. .

CIRCULATION, 2015, 131 (22) :1981-1988

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