D'souza Ryan S, Mestroni Luisa, Taylor Matthew R G
Adult Medical Genetics Program and Division of Cardiology, University of Colorado Denver, Denver, CO, USA.
Department of Medicine, Reading Hospital, West Reading, PA, USA.
J Community Hosp Intern Med Perspect. 2017 Jun 6;7(2):107-114. doi: 10.1080/20009666.2017.1324239. eCollection 2017 Mar.
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death. He had significant hypertrophic cardiomyopathy (ventricular septal thickness 65 mm) and experienced various arrhythmias during his clinical course including Wolf-Parkinson-White syndrome, non-sustained ventricular tachycardia, and pre-excited atrial fibrillation with a fasciculoventricular anomalous accessory pathway. He had sudden cardiac death from ventricular fibrillation at age 14 and his heart had a weight of 1425 grams at autopsy. We also provide a review of the cardiac Danon disease literature related to diagnostic and management approaches to aid cardiologists in evaluating and treating cardiac manifestations in Danon disease patients.
丹农病是一种罕见的X连锁显性遗传病，由溶酶体相关膜蛋白2（LAMP2）基因缺陷引起。它主要在年轻男性中表现出来，具有心肌病、骨骼肌病和智力障碍的典型三联征。如果不治疗，心脏病死亡是许多患者最终的死因。鉴于该病的罕见性，其自然病史了解甚少。在此，我们报告一例14岁西班牙裔丹农病男孩的病例，突出从症状出现到死亡的六年期间的主要临床事件和诊断研究结果。他患有严重的肥厚型心肌病（室间隔厚度65毫米），在临床过程中经历了各种心律失常，包括预激综合征、非持续性室性心动过速以及伴有分支心室异常附加通路的预激心房颤动。他在14岁时因心室颤动猝死，尸检时心脏重量为1425克。我们还对与诊断和管理方法相关的心脏丹农病文献进行了综述，以帮助心脏病专家评估和治疗丹农病患者的心脏表现。
