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对于疑似心肌炎的小儿急性心力衰竭病例,应考虑遗传病因。

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

作者信息

Brown Emily E, McMilllan Kristen Nelson, Halushka Marc K, Ravekes William J, Knight Margaret, Crosson Jane E, Judge Daniel P, Murphy Anne M

机构信息

Division of Cardiology, Department of Medicine, Center for Inherited Heart Disease, Johns Hopkins University, Baltimore, MD, USA.

Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA.

出版信息

Cardiol Young. 2019 Jul;29(7):917-921. doi: 10.1017/S1047951119001124. Epub 2019 Jun 14.

Abstract

There are a variety of causes of acute heart failure in children including myocarditis, genetic/metabolic conditions, and congenital heart defects. In cases with a structurally normal heart and a negative personal and family history, myocarditis is often presumed to be the cause, but we hypothesise that genetic disorders contribute to a significant portion of these cases. We reviewed our cases of children who presented with acute heart failure and underwent genetic testing from 2008 to 2017. Eighty-seven percent of these individuals were found to have either a genetic syndrome or pathogenic or likely pathogenic variant in a cardiac-related gene. None of these individuals had a personal or family history of cardiomyopathy that was suggestive of a genetic aetiology prior to presentation. All of these individuals either passed away or were listed for cardiac transplantation indicating genetic testing may provide important information regarding prognosis in addition to providing information critical to assessment of family members.

摘要

儿童急性心力衰竭有多种病因,包括心肌炎、遗传/代谢性疾病和先天性心脏缺陷。在心脏结构正常且个人及家族史阴性的病例中,通常推测病因是心肌炎,但我们假设遗传疾病在这些病例中占很大比例。我们回顾了2008年至2017年出现急性心力衰竭并接受基因检测的儿童病例。这些个体中有87%被发现患有遗传综合征或心脏相关基因中的致病或可能致病变异。这些个体在出现症状之前均无提示遗传病因的心肌病个人或家族史。所有这些个体要么去世,要么被列入心脏移植名单,这表明基因检测除了能提供对家庭成员评估至关重要的信息外,还可能提供有关预后的重要信息。

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