Duchenne型肌营养不良携带者心脏损伤评估方法的研究进展

摘要

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder, and the carriers of DMD can suffer from cardiac damage without muscle weakness, which can predispose to death. Consequently detecting and preventing cardiac damage in the early stage can improve the carriers' quality of life. The detection of early cardiac abnormalities and the evaluation of cardiac function for carriers mainly rely on the different examination methods, including electrocardiogram, echocardiogram, cardiovascular magnetic reso-nance, radioactive nuclide myocardial perfusion imaging and coronary angiography. Carriers of DMD with cardiac damage are assessed by different examination methods in different ways.%Duchenne型肌营养不良(DMD)是一种X染色体连锁隐性遗传性神经肌肉病。DMD基因携带者可在没有肌无力情况下出现心脏损伤，甚至危及生命。早期发现心肌损害，并提前预防可以改变生活质量，降低死亡率。DMD基因携带者心脏损害的早期检查手段包括心电图、心脏超声、心血管磁共振成像、放射性核素心肌灌注显像及冠状血管造影术等。不同检查手段从不同角度评估DMD基因携带者心脏损伤情况。