Key result
A 30-year-old male with Danon disease presented with systolic heart failure without intellectual or skeletal muscle involvement, leading to initial misdiagnosis as hypertrophic cardiomyopathy.
Why the study?
Danon disease has a rapidly progressive natural course, making early diagnosis crucial, but it can be initially misdiagnosed as idiopathic sarcomeric hypertrophic cardiomyopathy when typical features are absent.
Case Report (n=1)
Highlights the importance of considering Danon disease in patients presenting with hypertrophic cardiomyopathy and systolic heart failure, even without classic extra-cardiac manifestations.
Supports considering Danon disease in atypical HCM; extends regional reports but leaves screening criteria open.
: Danon disease is an X-linked dominant glycogen storage disease characterized by cardiomyopathy, skeletal myopathy, and intellectual disability. Danon disease has a rapidly progressive natural course, hence early diagnosis is crucial to achieve a proper management plan. This case concerns a 30-year-old male of Danon disease presenting with symptoms and signs of systolic heart failure, with no intellectual impairment and skeletal muscle involvement at presentation. Thus, he was initially misdiagnosed and managed as idiopathic sarcomeric hypertrophic cardiomyopathy. To the best of our knowledge, this is the first report of Danon disease in Iran, further implicating previous cases overlooked by local cardiologists.
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Amin et al. (2019) conducted a case report in Danon disease (n=1). A 30-year-old male with Danon disease presented with systolic heart failure without intellectual or skeletal muscle involvement, leading to initial misdiagnosis as hypertrophic cardiomyopathy.
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