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.

中文翻译：

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Loeys-Dietz 综合征与体位性直立性心动过速综合征共存的病例系列


Loeys-Dietz 综合征 （LDS） 是一种由 TGF-β 信号通路突变引起的结缔组织病。临床表现范围很广，包括血管、骨骼和颅面异常，以及关节过度活动。这些患者没有体位性直立性心动过速综合征 （POTS） 的证据报道。我们在这里报告了一系列到自主神经诊所就诊并发现患有 POTS 的 LDS 患者。了解这种关联的确切病理生理学需要进一步研究。承认这些情况的共存对于改善预后很重要，并且管理 LDS 患者的 POTS 需要一种跨学科的方法。