Cardiovascular, autonomic symptoms and quality of life in children with hypermobile Ehlers-Danlos syndrome.

IF 2.3 Q2 MEDICINE, GENERAL & INTERNAL
SAGE Open Medicine Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI:10.1177/20503121241287073
Amanda K Hertel, William R Black, Ashley Lytch, Emily Cramer, Lindsey Malloy Walton, Jordan T Jones
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Abstract

Objectives: Hypermobile Ehlers-Danlos syndrome is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations. Cardiovascular, autonomic symptoms and dysautonomia are frequently reported in adults with hypermobile Ehlers-Danlos syndrome and have been shown to have a negative impact on quality of life. However, there is scant literature on autonomic symptoms in pediatric patients with hypermobile Ehlers-Danlos syndrome. This study aims to characterize cardiovascular symptoms and diagnoses in pediatric patients with hypermobile Ehlers-Danlos syndrome and evaluate the impact of autonomic symptoms on quality of life.

Methods: As part of a longitudinal study, a consecutive sample of 70 patients with Ehlers-Danlos syndromes were recruited at routine clinical care visits. Medical history was reviewed, demographics were obtained, and patient-reported outcomes were completed by the patients.

Results: The average age of 70 patients was 15.8 years, and the majority were females (89%) and Caucasian (89%). The most common cardiovascular diagnoses were orthostatic intolerance (59%), dysautonomia (47%), and postural orthostatic tachycardia syndrome (21%). Most patients had an echocardiogram (77%), that was normal (82%). No patients had mitral valve prolapse, and only one patient had mild aortic root dilation (2%). Patient-reported outcomes revealed decreased quality of life associated with autonomic symptoms.

Conclusions: This study shows that most children with hypermobile Ehlers-Danlos syndrome have cardiovascular and autonomic symptoms, which have a negative impact on quality of life. Few patients with hypermobile Ehlers-Danlos syndrome have structural abnormalities on echocardiogram, which suggests that the cardiovascular symptoms experienced by patients are not due to structural cardiovascular disease and possibly reflective of autonomic pathology, though further studies will need to confirm this. This study confirms that cardiovascular and symptoms are prevalent and have a dramatic impact on quality of life in pediatric and young adult patients diagnosed with hypermobile Ehlers-Danlos syndrome.

活动过度埃勒斯-丹洛斯综合征患儿的心血管、自律神经症状和生活质量。
目的:活动过度埃勒斯-丹洛斯综合征是一种结缔组织疾病,以关节活动过度和其他系统性表现为特征。心血管、自律神经症状和自律神经失调是高活动性埃勒斯-丹洛斯综合征成人患者经常出现的症状,并已被证明会对生活质量产生负面影响。然而,有关活动过度埃勒斯-丹洛斯综合征儿科患者自律神经症状的文献却很少。本研究旨在描述活动过度型埃勒斯-丹洛斯综合征儿科患者的心血管症状和诊断特征,并评估自律神经症状对生活质量的影响:作为纵向研究的一部分,在常规临床护理就诊时连续抽取了70名埃勒斯-丹洛斯综合征患者。研究人员回顾了病史,了解了患者的人口统计学特征,并由患者填写了患者报告结果:70名患者的平均年龄为15.8岁,大多数为女性(89%)和白种人(89%)。最常见的心血管疾病诊断为正张力不耐受(59%)、自律神经失调(47%)和体位性正张力心动过速综合征(21%)。大多数患者接受了超声心动图检查(77%),其中正常者占 82%。没有患者出现二尖瓣脱垂,只有一名患者有轻度主动脉根部扩张(2%)。患者报告的结果显示,生活质量下降与自主神经症状有关:这项研究表明,大多数患高活动性埃勒斯-丹洛斯综合征的儿童都有心血管和自律神经症状,这些症状对生活质量有负面影响。很少有活动过度埃勒斯-丹洛斯综合征患者在超声心动图检查中发现结构异常,这表明患者的心血管症状并非由结构性心血管疾病引起,而可能是自主神经病变的反映,但这还需要进一步的研究来证实。这项研究证实,心血管症状在确诊为活动过度型埃勒斯-丹洛斯综合征的儿童和年轻成人患者中很普遍,并对其生活质量产生巨大影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
SAGE Open Medicine
SAGE Open Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
3.50
自引率
4.30%
发文量
289
审稿时长
12 weeks
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