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
Zena and Michael A. Weiner Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
JACC Basic Transl Sci. 2021 Jul 26;6(7):584-592. doi: 10.1016/j.jacbts.2021.06.001. eCollection 2021 Jul.
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 0.003). Thirteen genes classically associated with cardiomyopathy or neuromuscular disorders with cardiac involvement were implicated, including >1 associated damaging variant in , and . Phenotypes of subjects who have acute myocarditis with or without deleterious variants were similar, indicating that genetic testing is necessary to differentiate them.
某些心脏基因的缺陷会增加儿童患心肌炎的风险。为了确定这种关联的程度，我们对主要为成年急性心肌炎患者及配对的对照受试者进行了基因组测序。在117例急性心肌炎病例中的19例与468例对照受试者中的34例（P = 0.003）中发现了一系列心脏基因中可能有害的变异。涉及13个经典的与心肌病或有心脏受累的神经肌肉疾病相关的基因，包括肌营养不良蛋白（DMD）、肌联蛋白（TTN）和肌动蛋白（ACTN2）中存在>1个相关的有害变异。有或没有有害变异的急性心肌炎受试者的表型相似，这表明需要进行基因检测来区分他们。
Zotero 插件