Loeys-Dietz综合征合并体位性心动过速综合征:一个病例系列

IF 3.2 4区 医学 Q2 NEUROSCIENCES
Michel Boustany , Ali Arvantaj , Kamal R. Chémali
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引用次数: 0

摘要

Loeys-Dietz综合征(LDS)是由TGF- β信号通路突变引起的结缔组织疾病。临床表现范围广泛,包括血管、骨骼和颅面异常,以及关节活动过度。没有证据表明这些患者有体位性站立性心动过速综合征(POTS)。我们在此报告一例LDS患者到自主神经诊所就诊并发现有POTS。了解这种关联的确切病理生理学需要进一步的研究。认识到这些情况的共同发生对于改善预后很重要,并且管理LDS患者的POTS需要跨学科的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Co-occurrence of Loeys-Dietz syndrome with postural orthostatic tachycardia syndrome: A case series
Loeys-Dietz syndrome (LDS) is a connective tissue disorder arising from mutations in the TGF- β signaling pathway. The spectrum of clinical manifestations is broad, and includes vascular, skeletal, and craniofacial abnormalities, along with joint hypermobility. No evidence of postural orthostatic tachycardia syndrome (POTS) in these patients has been reported. We report here a case series of patients with LDS presenting to the autonomic clinic and found to have POTS. Understanding the exact pathophysiology of this association requires further studies. Acknowledging the co-occurrence of these conditions is important to improve outcomes, and managing POTS in LDS patients necessitates an interdisciplinary approach.
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来源期刊
CiteScore
5.80
自引率
7.40%
发文量
83
审稿时长
66 days
期刊介绍: This is an international journal with broad coverage of all aspects of the autonomic nervous system in man and animals. The main areas of interest include the innervation of blood vessels and viscera, autonomic ganglia, efferent and afferent autonomic pathways, and autonomic nuclei and pathways in the central nervous system. The Editors will consider papers that deal with any aspect of the autonomic nervous system, including structure, physiology, pharmacology, biochemistry, development, evolution, ageing, behavioural aspects, integrative role and influence on emotional and physical states of the body. Interdisciplinary studies will be encouraged. Studies dealing with human pathology will be also welcome.
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