原发性肉碱缺乏是年轻患者心力衰竭的可治疗原因。

Meral Kayıkçıoğlu, Benay Özbay, Burcu Yağmur, Ebru Canda, Selen Bayraktaroğlu, Evrim Şimşek, Sema Kalkan Uçar
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引用次数: 3

摘要

非缺血性扩张型心肌病是青壮年心衰最常见的亚组。一些代谢缺陷可能是这些年轻心力衰竭患者的潜在病因。然而,大多数病例被认为是特发性的。原发性肉碱缺乏是一种被忽视的遗传性代谢性疾病,在这些患者中引起心肌病。口服肉碱替代疗法可以防止原发性肉碱缺乏症患者发展为晚期心力衰竭和危及生命的心律失常。在这个病例报告中,我们提出了一个原发性肉碱缺乏症病例和他的兄弟的诊断和成功治疗期,以引起人们对原发性肉碱缺乏症作为年轻人心力衰竭的可治疗原因的关注。
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Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.

Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother's diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.

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来源期刊
CiteScore
1.30
自引率
12.50%
发文量
124
审稿时长
32 weeks
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