揭示原发性肉碱缺乏症可表现为肥厚型心肌病
Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy.
作者信息
Stafford Sarah G, Sang Charlie J, Jensen Brian C, Sivak Joseph A, Weickert Thelsa T
机构信息
Department of Internal Medicine and Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Division of Cardiology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
出版信息
JACC Case Rep. 2024 Nov 20;29(22):102730. doi: 10.1016/j.jaccas.2024.102730.
Primary carnitine deficiency may mimic hypertrophic cardiomyopathy and be mistakenly attributed to genotype-negative sarcomeric protein dysfunction in hypertrophic cardiomyopathy. Although rare, timely diagnosis may have significant implications on management and should prompt testing of family members.
原发性肉碱缺乏症可能酷似肥厚型心肌病，且可能被错误地归因于肥厚型心肌病中基因型阴性的肌节蛋白功能障碍。尽管罕见，但及时诊断可能对治疗有重大影响，并且应促使对家庭成员进行检测。
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