Hannah Lahey, Haewon Shin, Katherine Myers, Kim L McBride
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引用次数: 0
摘要
血管性埃勒斯-丹洛斯综合征、马凡综合征和洛伊-迪茨综合征会增加主动脉扩张和夹层的风险。之前的早期研究显示,活动度过高的埃勒斯-丹洛斯综合征(hEDS)也可能会增加风险,建议进行超声心动图筛查;随后的研究并未证实这一风险,也未建议进行超声心动图检查。这项以儿科为基础的研究通过连续超声心动图检查评估了 hEDS 患者主动脉扩张的患病率,并评估了主动脉夹层的家族史。我们从一家儿科中心的电子病历中回顾性地识别了接受过超声心动图检查的 hEDS 患者。在最初的超声心动图检查中,15/225 名受试者(平均年龄 12.9 岁)的主动脉根部 Z 值大于 2.0,没有 Z 值大于 3.0 的受试者。随后的研究(n = 68)发现主动脉根部 Z 评分在统计学上有显著下降。对初始主动脉根部 Z 评分大于 2.0 的患者(10 人)进行的重复超声心动图检查显示,Z 评分下降了 2.0,与普通人群无统计学差异。一级或二级亲属中均未发生主动脉夹层。总之,hEDS 患者的主动脉根部扩张率可能与普通人群无异。我们建议,在没有其他心脏检查结果或怀疑有其他疾病的情况下,hEDS 不需要进行超声心动图检查。
Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome.
Vascular Ehlers-Danlos, Marfan and Loeys-Dietz syndromes have increased risk of aortic dilation and dissection. Previous early studies showed hypermobile Ehlers-Danlos syndrome (hEDS) may also have increased risk, with echocardiography screening recommended; subsequent studies have not confirmed the risk or recommended echocardiography. This pediatric-based study assessed aortic dilation prevalence in those with hEDS by serial echocardiographic examinations and assessed family history for aortic dissections. We retrospectively identified individuals with hEDS who had echocardiography studies from the electronic medical records at one pediatric center. Aortic root Z-scores >2.0 were found in 15/225 subjects (average age 12.9 years) on initial echocardiograms, with no Z-score >3.0. Subsequent studies (n = 68) found statistically significant decline in aortic root Z-scores. Repeat echocardiography in those with initial aortic root Z-score >2.0 (n = 10) demonstrated a decline in Z score <2.0 in seven. On final examination, 9/225 (4.0%) had a Z-score >2.0, not statistically different from the general population. No aortic dissection occurred in first- or second-degree relatives. In conclusion, aortic root dilation rate in hEDS is likely not different from the general population. We propose that in the absence of other cardiac findings or suspicion for another disorder, echocardiography is not required in hEDS.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .