Key result
Genetic testing confirms Danon disease via LAMP2 variant in rapidly progressive DCM requiring heart transplantation.
Why the study?
Sex-dependent variability and imaging overlap with other cardiomyopathies make the initial diagnosis of Danon disease challenging, particularly in heterozygous females who present with variable phenotypes and fewer extracardiac clues.
Highlights that Danon disease in females can present as rapidly progressive non-ischaemic dilated cardiomyopathy with diffuse fibrosis, mimicking other conditions and requiring genetic testing for definitive diagnosis.
Prompts LAMP2 genetic testing in women with rapidly progressive non-ischaemic DCM; extends Danon disease phenotypic spectrum in females.
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Carvalheiro et al. (2026) studied this question. Genetic testing revealed a pathogenic LAMP2 variant, confirming Danon disease in a woman with rapidly progressive non-ischaemic dilated cardiomyopathy requiring heart transplantation.
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