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当前儿童肥厚型心肌病精准诊治的机遇与挑战

Precision diagnosis and treatment for hypertrophic cardiomyopathy in children: Current opportunities and challenges
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摘要 肥厚型心肌病(HCM)是影响儿童和青少年第二常见的心肌疾病,也是年轻运动员猝死的主要原因。儿童HCM具有高度异质性,以明确病因为目标的精准诊断面临着巨大的挑战;同时,儿童HCM诊治及预后的前瞻性和随机对照临床研究极其少见,儿童HCM个体化的风险评估和治疗以及规范的家系管理和遗传咨询亟需制定或完善基于儿童HCM循证证据的共识或指南。 Hypertrophic cardiomyopathy(HCM)is the second commonest cardiac muscle disease affecting children and adolescents and is a leading cause of sudden death in young athletes. HCM is highly heterogeneous in pediatric population,and currently the precision diagnosis of the etiology of the disease faces enormous challenges. In addition,prospective and randomized controlled clinical studies in the diagnosis,treatment and prognosis of pediatric HCM are extremely rare. Evidence-based consensus or guidelines needs to be developed urgently for personalized risk assessment and treatment,as well as standardized family management and genetic counseling.
作者 李自普 韩玲 LI Zi-pu;HAN Ling(Department of Cardiology, Qingdao Women and Children's Hospital, Qingdao 266034, China)
出处 《中国实用儿科杂志》 CSCD 北大核心 2019年第5期340-346,共7页 Chinese Journal of Practical Pediatrics
基金 青岛市医疗卫生优秀人才培养项目[青卫科教字(2017)4号]
关键词 肥厚型心肌病 精准诊治 儿童 hypertrophic cardiomyopathy precision diagnosis and treatment child
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