Pathological diagnosis of Danon disease by endomyocardial biopsy
10.3760/cma.j.cn112151-20200318-00224
- VernacularTitle:Danon病心内膜心肌活检病理诊断
- Author:
Qian LI
1
;
Dong CHEN
;
Jianfeng SHANG
;
Jiangyang LU
;
Jiarui KANG
;
Qiang LYU
Author Information
1. 首都医科大学附属北京安贞医院病理科 100029
- Keywords:
Cardiomyopathy, hypertrophic;
Lysosomal-associated membrane protein 2;
Danon disease
- From:
Chinese Journal of Pathology
2020;49(12):1276-1281
- CountryChina
- Language:Chinese
-
Abstract:
O bjective To investigate the clinicopathological features and differential diagnosis of Danon disease. Methods:Two cases of Danon disease were selected from Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2019 to December 2019. The clinical history, histological, immunohistochemical, ultrastructural and gene mutation analysis were collected.Results:Both of the patients were male, aged 21 and 19 years old, respectively. They were diagnosed with hypertrophic cardiomyopathy by clinicians. The histologic features of endocardial biopsies were hypertrophy and vacuolar degeneration of cardiomyocytes. Part of cardiomyocytes appeared as intracellular clear areas lacking myofibers. The nuclei were large, irregular and hyperchromatic. And lipofuscin was occasionally observed in the nuclei of cardiomyocytes. Ultrastructural feature of electron microscopic was glycogen accumulation. Genetic analysis identified two lysosome-associated membrane protein-2 (LAMP2) gene mutations. A 1-bp deletion in exon 8 (c.973delC) was found in patient 1, leading to a frame-shift mutation. A 3-bp duplication in exon 5 (c.719_721dupAGC) was found in patient 2, leading to an insertion mutation.Conclusions:Danon disease is a rare disease characterized by hypertrophic cardiomyopathy. It is caused by mutations in the LAMP2 gene. Vacuolar degeneration of cardiomyocytes, glycogen accumulation under electron microscope and the mutation of LAMP2 gene are the critical features of Danon disease. Familiar with its clinicopathological characteristics would be helpful to avoid the misdiagnosis of Danon disease.
