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Danon disease: focusing on heart
1Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Abstract:
Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. Cardiomyopathy, skeletal myopathy and mental retardation are the typical triad of Danon disease. More than 60 LAMP2 mutations have been reported. The molecular mechanism is defects in LAMP2 protein (due to LAMP2 mutation) which causes insidious glycogen accumulation in cardiac muscle cells and resulting in cardiac hypertrophy and electrophysiological abnormalities. However, there are significant differences between the male and female Danon disease patients with regard to clinical features and cardiac manifestations. The clinical symptoms are variable, from asymptomatic to sudden cardiac death. Wolff-Parkinson-White syndrome is more common in male than female patients. Hypertrophic cardiomyopathy is predominant in male patients, whereas the similar prevalence of hypertrophic and dilated cardiomyopathy in female patients. Male patients are diagnosed usually at teenage, whereas the diagnosis and events occurred approximately 15 years later in female than male patients. Heart transplantation is the reliable treatment once the occurrence of heart failure and should be considered as early as possible due to its rapid progression.
Insights
Danon disease is a rare genetic disorder caused by LAMP2 gene mutations, leading to heart and muscle problems. Understanding the differences in male and female patients is crucial for timely diagnosis and treatment.
Area of Science:
- Genetics
- Molecular Biology
- Cardiology
Background:
- Danon disease is a rare X-linked dominant lysosomal disorder.
- It stems from mutations in the lysosome-associated membrane protein 2 (LAMP2) gene.
- Key features include cardiomyopathy, skeletal myopathy, and intellectual disability.
Purpose of the Study:
- To summarize the molecular mechanisms of Danon disease.
- To highlight the clinical and cardiac differences between male and female patients.
- To emphasize the importance of early diagnosis and treatment.
Main Methods:
- Review of reported LAMP2 mutations and their clinical consequences.
- Analysis of sex-specific clinical manifestations and cardiac phenotypes.
- Discussion of diagnostic timelines and treatment options.
Main Results:
- Over 60 LAMP2 mutations have been identified, causing glycogen accumulation in cardiac cells.
- Significant sex-based differences exist in clinical presentation, with males experiencing earlier onset and specific conditions like Wolff-Parkinson-White syndrome.
- Hypertrophic cardiomyopathy is more common in males, while females show similar rates of hypertrophic and dilated cardiomyopathy.
Conclusions:
- Danon disease exhibits variable severity, ranging from asymptomatic cases to sudden cardiac death.
- Early diagnosis and consideration of heart transplantation are vital due to the disease's rapid progression, especially in male patients.
- Recognizing sex-specific differences aids in personalized management strategies for Danon disease.
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