[Clinical characteristics of Danon disease].

Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease.目的： 回顾7例Danon病患者的临床资料，分析探讨Danon病的临床特征。 方法： 对2008年4月至2021年7月在中国医学科学院北京协和医院就诊的7例Danon病患者的病历资料进行回顾和总结，其中6例经编码溶酶体膜相关蛋白2（lysosomal associated membrane protein-2，LAMP-2）基因突变检测确诊为Danon病，1例经临床病理诊断确诊为Danon病。本文对7例患者的临床表现、生化指标、心电图、心脏超声、骨骼肌及心肌活检和基因检测结果进行分析，同时进行随访。 结果： 7例患者中男性6例，平均就诊年龄（15.4±3.5）岁，平均随访时间（27.7±17.0）个月。临床以心肌肥厚（6/7）、肌力下降（2/7）和学习成绩差（3/7）为主要表现，心电图以预激综合征（6/7）、左心室肥厚（7/7）为特征，超声心动图常提示心肌肥厚（6/7），随着疾病发展出现左心室扩张及收缩功能下降（1/7）。其中6例患者骨骼肌肌肉活检结果符合自噬空泡性肌病。3例行心内膜下心肌活检，结果可见心肌细胞大量糖原沉积伴自噬体形成。6例患者行编码LAMP-2基因检测，结果均发现错义突变。随访期间，1例患者于确诊4年后因高度房室传导阻滞行植入型心律转复除颤器植入术，其余患者均无死亡及心血管事件住院。 结论： Danon病以肥厚型心肌病、骨骼肌病和智力障碍三联征为临床特点。预激综合征是常见的心电图表现，骨骼肌和心肌病理活检可见自噬空泡形成，编码LAMP-2基因检测突变分析可帮助疾病确诊。.