背景:关于中国成骨不全症(OI)患者的超声心动图异常和关节过度活动的特征知之甚少。我们研究的目的是调查这些特征,中国OI患者超声心动图异常和关节过度活动的患病率和相关性。
方法:在年龄和性别与健康对照相匹配的儿童和成人OI患者中进行了一项横断面比较研究。所有患者和对照组均进行经胸超声心动图检查,和参数以体表面积(BSA)为索引。Beighton评分用于评估关节过度活动的程度。
结果:共研究了48例OI患者(25名青少年和23名成年人)和129名年龄和性别匹配的健康对照(79名青少年和50名成年人)。在我们的研究中鉴定了四个基因(COL1A1,COL1A2,IFITM5和WNT1)和39个不同的突变位点。轻度瓣膜返流是最常见的心脏异常:12%和36%的儿科OI患者发现轻度二尖瓣和三尖瓣返流,分别;在23名OI成年人中,13%和17%的患者有轻度二尖瓣和三尖瓣反流,分别,4%有轻度主动脉瓣反流。在多元回归分析中,OI是青少年左心房直径(LAD)(β=-3.670,P<0.001)和缩短分数(FS)(β=3.005,P=0.037)的关键预测因子。而对于成年人来说,OI是LAD(β=-3.621,P<0.001)和左心室质量(LVM)(β=58.928,P<0.001)的显著预测因子。OI青少年和成人中全身性关节过度活动的百分比分别为56%和20%,分别。此外,只有OI青少年组的Mann-WhitneyU检验结果显示,超声心动图正常组和异常组的关节过度活动程度存在显著差异(P=0.004).
结论:轻度瓣膜反流是OI青少年和成年人中最常见的心脏异常。与OI成年人相比,OI青少年的关节过度活动更为普遍和广泛。超声心动图异常可能暗示OI型胶原蛋白的损害更为严重。OI患者应尽早进行基线超声心动图检查。
BACKGROUND: Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the characteristics, prevalence and correlation of echocardiographic abnormalities and joint hypermobility in Chinese patients with OI.
METHODS: A cross-sectional comparative study was conducted in pediatric and adult OI patients who were matched in age and sex with healthy controls. Transthoracic echocardiography was performed in all patients and controls, and parameters were indexed for body surface area (BSA). The Beighton score was used to evaluate the degree of joint hypermobility.
RESULTS: A total of 48 patients with OI (25 juveniles and 23 adults) and 129 age- and sex-matched healthy controls (79 juveniles and 50 adults) were studied. Four genes (COL1A1, COL1A2, IFITM5, and WNT1) and 39 different mutation loci were identified in our study. Mild valvular regurgitation was the most common cardiac abnormality: mild mitral and tricuspid regurgitation was found in 12% and 36% of pediatric OI patients, respectively; among 23 OI adults, 13% and 17% of patients had mild mitral and tricuspid regurgitation, respectively, and 4% had mild aortic regurgitation. In multiple regression analysis, OI was the key predictor of left atrium diameter (LAD) (β=-3.670, P < 0.001) and fractional shortening (FS) (β = 3.005, P = 0.037) in juveniles, whereas for adults, OI was a significant predictor of LAD (β=-3.621, P < 0.001) and left ventricular mass (LVM) (β = 58.928, P < 0.001). The percentages of generalized joint hypermobility in OI juveniles and adults were 56% and 20%, respectively. Additionally, only in the OI juvenile group did the results of the Mann‒Whitney U test show that the degree of joint hypermobility was significantly different between the echocardiographic normal and abnormal groups (P = 0.004).
CONCLUSIONS: Mild valvular regurgitation was the most common cardiac abnormality in both OI juveniles and adults. Compared with OI adults, OI juveniles had more prevalent and wider joint hypermobility. Echocardiographic abnormalities may imply that the impairment of type I collagen is more serious in OI. Baseline echocardiography should be performed in OI patients as early as possible.