Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders
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DOI：
10.1002/ajmg.a.40364
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发表时间：
2018-09-01
影响因子：
2
通讯作者：
Kallish, Staci
中科院分区：
文献类型：
--
作者：
Asher, Stephanie B.;Chen, Rensa;Kallish, Staci
Ehlers-Danlos综合征（EDS）是一组遗传性结缔组织疾病，其中以经典型EDS（cEDS）和活动过度型EDS（hEDS）最为常见。之前有报告称，cEDS和hEDS中二尖瓣脱垂（MVP）和主动脉根部扩张（ARD）的发生频率增加。最近，在儿科人群中进行的一项研究没有显示患病率增加（Ritter等人，American Journal of Medical Genetics Part A，173（6），1467-1472，2017）。本研究的目的是审查大量cEDS、hEDS和高动性谱系障碍患者，以确定MVP和ARD的频率。对209例超声心动图患者进行了回顾性病历审查。总体而言，6.4%（13/209）的患者患有MVP，1.6%（3/189）的患者患有ARD。虽然MVP的存在高于一般人群中报告的情况，但没有患者患有重度MVP或需要手术干预。该队列中没有患者的主动脉根部直径需要手术修复。根据本研究和既往研究的结果，可能不需要常规超声心动图评估瓣膜疾病和ARD，除非存在症状或家族史。
Ehlers-Danlos syndromes (EDSs) are a group of inherited connective tissue disorders, and among them, classical EDS (cEDS) and hypermobile EDS (hEDS) are the most common. Mitral valve prolapse (MVP) and aortic root dilation (ARD) have previously been reported to occur at an increased frequency within cEDS and hEDS. More recently, a study performed in the pediatric population did not show increased prevalence (Ritter et al., American Journal of Medical Genetics Part A, 173(6), 1467-1472, 2017). The purpose of this study was to review a large population of individuals with cEDS, hEDS, and hypermobility spectrum disorders to determine the frequency of MVP and ARD. A retrospective chart review of 209 individuals with echocardiograms was performed. Overall, 6.4% (13/209) had MVP and 1.6% (3/189) were found to have ARD. Although the presence of MVP is higher than what has been reported in the general population, no patients had severe MVP or required surgical intervention. No patients in this cohort had an aortic root diameter requiring surgical repair. Based on the results of this study and previous studies, routine echocardiograms to assess for valvular diseases and ARD may not be necessary unless warranted by presence of symptoms or family history.