Aortic Root Dilatation in Mucopolysaccharidosis I-VII
Aortic Root Dilatation in Mucopolysaccharidosis I-VII
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DOI：
10.3390/ijms17122004
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发表时间：
2016-12-01
影响因子：
5.6
通讯作者：
Wang, Raymond Y.
中科院分区：
文献类型：
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作者：
Bolourchi, Meena;Renella, Pierangelo;Wang, Raymond Y.
粘多糖病(MPS)中的主动脉根部扩张(ARD)的发生率没有很好的文献记载。我们调查了奥兰治县儿童医院34名MPS患者的主动脉根部测量。通过回顾图表和超声心动图测量，提取诊断、治疗状态、年龄、性别、身高、体重和主动脉根部参数(主动脉瓣环(AVA)、Valsalva窦(SOV)和窦管交界处(STJ))。描述性统计、单因素方差分析和配对后t检验用于总结主动脉的大小。为ARD构建准确的二项式95%可信区间(CI)，其定义为SOV处的z分数大于2。患者年龄3.4~25.9岁，平均13.3±6.1岁；身高0.87~1.62 m，平均1.24±0.21岁；体重14.1~84.5 kg，平均34.4±18.0 kg。腹主动脉扩张的发生率为41%(14/34；95%CI：25%-59%)；SOV为35%(12/34；95%CI：20%-54%)；STJ为30%(9/30；95%CI：15%-49%)。ARD患病率最高的是MPS IVA(87.5%)。接受造血干细胞移植(HSCT)或酶替代疗法(ERT)治疗的MPS患者与未接受治疗的MPS患者在AVA(z=1.9+/-2.5 vs.z=1.5+/-2.4；p=0.62)、SOV(z=1.2+/-1.6 vs.z=1.3+/-2.2；P=0.79)或STJ(z=1.0+/-1.8 vs.z=1.2+/-1.6；p=0.83)。在我们的MPS I-VII患者队列中ARD的患病率为35%。因此，我们建议在这一患者群体中常规进行ARD筛查。
The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc t-tests were used to summarize the aortic dimensions. Exact binomial 95% confidence intervals (CIs) were constructed for ARD, defined as a z-score greater than 2 at the SoV. The patient age ranged from 3.4-25.9 years (mean 13.3 +/- 6.1), the height from 0.87-1.62 meters (mean 1.24 +/- 0.21), and the weight from 14.1-84.5 kg (mean 34.4 +/- 18.0). The prevalence of dilation at the AVA was 41% (14/34; 95% CI: 25%-59%); at the SoV was 35% (12/34; 95% CI: 20%-54%); and at the STJ was 30% (9/30; 95% CI: 15%-49%). The highest prevalence of ARD was in MPS IVa (87.5%). There was no significant difference between mean z-scores of MPS patients who received treatment with hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) vs. untreated MPS patients at the AVA (z = 1.9 +/- 2.5 vs. z = 1.5 +/- 2.4; p = 0.62), SoV (z = 1.2 +/- 1.6 vs. z = 1.3 +/- 2.2; p = 0.79), or STJ (z = 1.0 +/- 1.8 vs. z = 1.2 +/- 1.6; p = 0.83). The prevalence of ARD was 35% in our cohort of MPS I-VII patients. Thus, we recommend screening for ARD on a routine basis in this patient population.