Kyaw Htoo, Shaik Fatima, Lin Aung Naing, Shinnar Meir
Cardiology Department, Cardiology Fellow, Brooklyn Hospital Center.
Department of Internal Medicine, Mount Sinai Beth Israel Medical Center.
Cureus. 2018 Feb 4;10(2):e2155. doi: 10.7759/cureus.2155.
We present the case of a patient with dilated cardiomyopathy caused by a novel mutation in the lysosome-associated membrane protein-2 (LAMP-2) gene. Patients with pathogenic mutations of this gene typically suffer from Danon disease - a condition that leads to cognitive decline, severe skeletal myopathy, and severe hypertrophic cardiomyopathy. Our patient's presentation and clinical course, however, is different and much less severe than other patients with this disease. He did not suffer from neurologic and musculoskeletal complications. He is also possibly the longest-known survivor of this disease without a heart transplant. This disease is unfamiliar to many physicians, and our case highlights the importance of an awareness of this disorder, particularly because of its implications for both the patient and his family.
我们报告了一例因溶酶体相关膜蛋白2（LAMP-2）基因的新突变导致扩张型心肌病的患者。该基因发生致病性突变的患者通常患有丹农病，这种疾病会导致认知能力下降、严重的骨骼肌病和严重的肥厚型心肌病。然而，我们这位患者的临床表现和病程与该疾病的其他患者不同，且严重程度要低得多。他没有出现神经和肌肉骨骼方面的并发症。他也可能是已知未进行心脏移植而存活时间最长的该疾病患者。许多医生对这种疾病并不熟悉，我们的病例凸显了认识这种疾病的重要性，特别是考虑到它对患者及其家庭的影响。
