Radunovic Zoran, Steine Kjetil
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Cardiology, Akershus University Hospital, Oslo, Norway.
Can J Cardiol. 2015 Nov;31(11):1386-92. doi: 10.1016/j.cjca.2015.04.016. Epub 2015 Apr 25.
Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue in most cases secondary to a deficiency of type-I collagen, which represents approximately 75% of total collagen in the adult myocardium. The purpose of our study was to assess the prevalence of cardiomyopathy, electrocardiogram (ECG) abnormalities, and cardiovascular symptoms among patients with OI.
We studied 99 adults with OI from the national OI registry in Norway. Patients were divided into type I, III, and IV, and 52 control subjects. History and physical examination, ECG, and echocardiographic parameters of left ventricular (LV) and right ventricular (RV) systolic and diastolic function were obtained.
ECG abnormalities and cardiac symptoms were more common among patients with OI. RV and LV systolic peak velocity were significantly lower and diastolic mitral tricuspid valve wave and early diastolic tissue Doppler velocity ratio increased in the OI group compared with the control subjects; 5.7 ± 1.2 vs 6.3 ± 1.2 cm/s (P < 0.05) and 8 ± 1.8 vs 9.5 ± 1.4 cm/s (P < 0.05) and 9.8 ± 2.6 vs 7.4 ± 2.0 (P < 0.05) and 8.6 ± 3.3 vs 6.1 ± 1.4, respectively. In multivariate analysis OI was found to be an independent risk factor for RV systolic and diastolic dysfunction.
Cardiac symptoms and ECG changes are common among patients with OI. Our study findings suggest RV and LV systolic and diastolic function to be impaired in patients with OI compared with normal individuals. In multivariate analysis, however, OI was an independent predictor only of reduced RV systolic and diastolic function.
成骨不全症（OI），也称为脆骨病或洛布斯坦综合征，是一种先天性骨疾病，其特征是骨骼脆弱，容易骨折。大多数情况下，OI患者出生时结缔组织存在缺陷，继发于I型胶原蛋白缺乏，I型胶原蛋白约占成人心肌总胶原蛋白的75%。我们研究的目的是评估OI患者中心肌病、心电图（ECG）异常和心血管症状的患病率。
我们研究了挪威全国OI登记处的99名成年OI患者。患者分为I型、III型和IV型，并与52名对照受试者进行比较。获取了病史和体格检查、心电图以及左心室（LV）和右心室（RV）收缩和舒张功能的超声心动图参数。
ECG异常和心脏症状在OI患者中更为常见。与对照受试者相比，OI组的RV和LV收缩期峰值速度显著降低，舒张期二尖瓣三尖瓣波和舒张早期组织多普勒速度比值增加；分别为5.7±1.2对6.3±1.2 cm/s（P<0.05）和8±1.8对9.5±1.4 cm/s（P<0.05）以及9.8±2.6对7.4±2.0（P<0.05）和8.6±3.3对6.1±1.4。在多变量分析中，发现OI是RV收缩和舒张功能障碍的独立危险因素。
心脏症状和ECG改变在OI患者中很常见。我们的研究结果表明，与正常个体相比，OI患者的RV和LV收缩及舒张功能受损。然而，在多变量分析中，OI仅是RV收缩和舒张功能降低的独立预测因素。
