家族性高胆固醇血症伴早期冠状动脉粥样硬化性心脏病：一例报告。

Luo Yanhong, Zheng Min, Zhang Yutin, He Shuang, Zhang Lei, Sun Huichao, Liu Xiaoyan, Tan Tao, Zhu Hua, He Jianfeng

Department of Endocrinology and Genetic Metabolism, Children's Hospital Chongqing Medical University, Chongqing 400014, P.R. China.

Department of Cardiology, Children's Hospital Chongqing Medical University, Chongqing 400014, P.R. China.

Exp Ther Med. 2019 Aug;18(2):981-986. doi: 10.3892/etm.2019.7653. Epub 2019 Jun 10.

Patients with familial hypercholesterolemia usually present with high levels of serum low-density lipoprotein, xanthomas and early coronary artery disease. A 13 years old female patient was admitted to Children's Hospital of Chongqing Medical University presenting symptoms of heart failure. Laboratory tests showed that her cholesterol and low-density lipid levels were extremely high. Electrocardiogram test revealed that she had sinus tachycardia, QT lengthening and ST-T change. Multiple cardiac function abnormalities were diagnosed by echocardiogram. Multiple coronary artery stenosis was determined by computed tomography angiography. After the combination of lipid lowering, anti-thrombosis, and cardiac remodeling therapies, the patient's symptoms were significantly improved and the patient was discharged.

家族性高胆固醇血症患者通常表现为血清低密度脂蛋白水平升高、出现黄色瘤和早期冠状动脉疾病。一名13岁女性患者因出现心力衰竭症状入住重庆医科大学附属儿童医院。实验室检查显示她的胆固醇和低密度脂蛋白水平极高。心电图检查显示她有窦性心动过速、QT间期延长和ST-T改变。超声心动图诊断出多项心功能异常。计算机断层扫描血管造影确定存在多处冠状动脉狭窄。经过降脂、抗血栓和心脏重塑治疗相结合后，患者症状明显改善并出院。