PDF(Pubmed)
Abstract：
UNASSIGNED: Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects.
UNASSIGNED: We conducted a retrospective chart review of adult patients treated in the EDS Clinic from November 1, 2019, to June 20, 2022 to identify those with cardiac defects. Echocardiogram data were collected using a data collection service. All EDS Clinic patients were evaluated by a single physician and diagnosed according to the 2017 EDS diagnostic criteria. Patient demographic, family and cardiac history were extracted from self-reported responses from a REDCap clinical intake questionnaire. Patients with at least 1 available echocardiogram (ECHO) were selected for the study (n = 568).
UNASSIGNED: The prevalence of aortic root dilation in patients with hEDS was 2.7% and for HSD was 0.6%, with larger measurements for males than females and with age. Based on self-reported cardiac history that was verified from the medical record, patients with hEDS with bradycardia (p = 0.034) or brain aneurysm (p = 0.015) had a significantly larger average adult aortic root z-score. In contrast, patients with HSD that self-reported dysautonomia (p = 0.019) had a significantly larger average aortic root z-score. The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.8%. Variants of uncertain significance were identified in 16 of 84 patients that received genetic testing based on family history.
UNASSIGNED: These data reveal a low prevalence of cardiac defects in a large cohort of well-characterized hEDS and HSD patients. Differences in cardiovascular issues were not observed between patients with hEDS vs. HSD; and our findings suggest that cardiac defects in patients with hEDS or HSD are similar to the general population.
UNASSIGNED: We conducted a retrospective chart review of adult patients treated in the EDS Clinic from November 1, 2019, to June 20, 2022 to identify those with cardiac defects. Echocardiogram data were collected using a data collection service. All EDS Clinic patients were evaluated by a single physician and diagnosed according to the 2017 EDS diagnostic criteria. Patient demographic, family and cardiac history were extracted from self-reported responses from a REDCap clinical intake questionnaire. Patients with at least 1 available echocardiogram (ECHO) were selected for the study (n = 568).
UNASSIGNED: The prevalence of aortic root dilation in patients with hEDS was 2.7% and for HSD was 0.6%, with larger measurements for males than females and with age. Based on self-reported cardiac history that was verified from the medical record, patients with hEDS with bradycardia (p = 0.034) or brain aneurysm (p = 0.015) had a significantly larger average adult aortic root z-score. In contrast, patients with HSD that self-reported dysautonomia (p = 0.019) had a significantly larger average aortic root z-score. The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.8%. Variants of uncertain significance were identified in 16 of 84 patients that received genetic testing based on family history.
UNASSIGNED: These data reveal a low prevalence of cardiac defects in a large cohort of well-characterized hEDS and HSD patients. Differences in cardiovascular issues were not observed between patients with hEDS vs. HSD; and our findings suggest that cardiac defects in patients with hEDS or HSD are similar to the general population.
摘要：
■结缔组织结构缺陷可能会导致患有高移动性Ehlers-Danlos综合征（hEDS）或高移动性频谱障碍（HSD）的个体出现心脏缺陷。
■我们对2019年11月1日至2022年6月20日在EDS诊所接受治疗的成年患者进行了回顾性图表审查，以确定患有心脏缺陷的患者。使用数据收集服务收集超声心动图数据。所有EDS门诊患者均由一名医师进行评估，并根据2017年EDS诊断标准进行诊断。患者人口统计，从REDCap临床摄入问卷的自我报告回答中提取家族史和心脏病史.选择具有至少1个可用超声心动图（ECHO）的患者进行研究（n=568）。
■hEDS患者主动脉根部扩张的患病率为2.7％，HSD为0.6％，男性比女性和年龄更大。根据从病历中核实的自我报告的心脏病史，有心动过缓(p=0.034)或脑动脉瘤(p=0.015)的hEDS患者的平均成人主动脉根z评分明显较高.相比之下,自我报告自主神经失调(p=0.019)的HSD患者的平均主动脉根z评分明显更大.hEDS患者诊断为二尖瓣脱垂的患病率为3.5％，HSD为1.8％。根据家族史接受基因检测的84例患者中，有16例发现了不确定意义的变异。
■这些数据显示，在大量特征明确的hEDS和HSD患者中，心脏缺陷的患病率较低。hEDS患者与hEDS患者之间未观察到心血管问题的差异。HSD;我们的研究结果表明，hEDS或HSD患者的心脏缺陷与普通人群相似。
■我们对2019年11月1日至2022年6月20日在EDS诊所接受治疗的成年患者进行了回顾性图表审查，以确定患有心脏缺陷的患者。使用数据收集服务收集超声心动图数据。所有EDS门诊患者均由一名医师进行评估，并根据2017年EDS诊断标准进行诊断。患者人口统计，从REDCap临床摄入问卷的自我报告回答中提取家族史和心脏病史.选择具有至少1个可用超声心动图（ECHO）的患者进行研究（n=568）。
■hEDS患者主动脉根部扩张的患病率为2.7％，HSD为0.6％，男性比女性和年龄更大。根据从病历中核实的自我报告的心脏病史，有心动过缓(p=0.034)或脑动脉瘤(p=0.015)的hEDS患者的平均成人主动脉根z评分明显较高.相比之下,自我报告自主神经失调(p=0.019)的HSD患者的平均主动脉根z评分明显更大.hEDS患者诊断为二尖瓣脱垂的患病率为3.5％，HSD为1.8％。根据家族史接受基因检测的84例患者中，有16例发现了不确定意义的变异。
■这些数据显示，在大量特征明确的hEDS和HSD患者中，心脏缺陷的患病率较低。hEDS患者与hEDS患者之间未观察到心血管问题的差异。HSD;我们的研究结果表明，hEDS或HSD患者的心脏缺陷与普通人群相似。
