Wang Shuai, Wang Qinglei, Zhai Ning, Wang Xin, Li Zhihua, Gan Lijun, Cui Yinghua
Department of Cardiology, Affiliated Hospital of Jining Medical University, Jining Medical University, Jining, Shandong, China.
Department of Medical Imaging, Affiliated Hospital of Jining Medical University, Jining Medical University, Jining, Shandong, China.
J Int Med Res. 2021 Feb;49(2):300060520986676. doi: 10.1177/0300060520986676.
Danon disease is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the lysosome-associated membrane protein 2 gene. Progression of Danon disease is unknown because of its rare incidence in a diverse ethnic population. We report longitudinal data from two patients who were diagnosed with Danon disease by a genetic test. The evaluation protocol included electrocardiographic monitoring, echocardiography, and magnetic resonance imaging. Progression of hypertrophic cardiomyopathy to dilated cardiomyopathy was observed in the first patient. He died from sudden cardiac arrest. The second patient is currently suffering from hypertrophic cardiomyopathy. Development of the hypertrophic phase progressing into the dilated phase in Danon disease may provide useful information for early identification and clinical decisions in patients with this disease.
丹侬病是一种罕见的X连锁显性遗传病，由溶酶体相关膜蛋白2基因的功能丧失性突变引起。由于其在不同种族人群中的发病率较低，丹侬病的病情进展尚不清楚。我们报告了两名通过基因检测被诊断为丹侬病的患者的纵向数据。评估方案包括心电图监测、超声心动图和磁共振成像。在第一名患者中观察到肥厚型心肌病进展为扩张型心肌病。他死于心脏骤停。第二名患者目前患有肥厚型心肌病。丹侬病中肥厚期进展为扩张期可能为该病患者的早期识别和临床决策提供有用信息。
