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Danon disease: Gender differences in presentation and outcomes.

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Danon disease (DD) is a severe X-linked condition. This review shows cardiac issues are common in both sexes, but men experience multisystemic disease and earlier outcomes than women.

Keywords:
Danon diseaseDilated cardiomyopathyGenderGenetic testingHypertrophic cardiomyopathyLAMP2 mutation

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Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Danon disease (DD) is a rare X-linked disorder causing autophagic vacuolar myopathy and severe cardiomyopathy.
  • The natural history of DD is poorly understood due to its rarity.

Purpose of the Study:

  • To systematically review published cases of Danon disease.
  • To describe disease variability and outcomes in affected individuals.

Main Methods:

  • A systematic review of 83 manuscripts from MEDLINE and EMBASE databases up to October 2017.
  • Identification of 146 patients with confirmed Danon disease through genetic testing or muscle biopsy.

Main Results:

  • Cardiac abnormalities were present in 92.5% of patients.
  • Females presented with hypertrophic (HCM) or dilated cardiomyopathy (DCM), often with isolated cardiac disease.
  • Males predominantly showed HCM and frequently experienced multisystemic disease including cognitive impairment and skeletal myopathy.

Conclusions:

  • Danon disease leads to severe morbidity and mortality in both sexes.
  • Significant differences exist in disease presentation and progression between males and females.
  • Further prospective natural history studies are needed to validate these findings.