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Study Provides Insights on Clinical Characteristics and Prognosis of Danon Disease

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Danon disease (DD), which is caused by mutations in the LAMP2 gene, is considered a multisystemic disease that is characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myopathy, childhood presentation, and worse prognosis in men. However, these characterizations have been based on scarce data, which have since been disputed by a Spanish study that analyzed the clinical records of 27 patients (mean age, 31 years ± 19 years; 78% women) with DD treated at 10 Spanish hospitals.

The investigators found the following:

  • Male patients had a higher prevalence of extracardiac manifestations, including learning disorders (83%), myopathy (80%), and visual alterations (60%), all of which were rarely observed in women, affecting 5%, 0%, and 27% of women with DD, respectively;
  • Hypertrophic cardiomyopathy was the most common form of heart disease (61%), but the mean maximum wall thickness was 15 ± 7 mm;
  • Dilated cardiomyopathy was present in 12 patients, 10 of who were women;
  • Only 11 patients (49%) had pre-excitation;
  • 65% (n=16) of patients first presented with DD after age 20 years;
  • After a median follow-up of 4 years (interquartile range, 2-9), 4 men (67%) and 9 women (43%) died or required a transplant;
  • Cardiac disease and adverse events occurred later in women (37 ± 9 vs 23 ± 16 and 36 ± 20 vs 20 ± 11 years, respectively).

Read more here.


López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, et al. Clinical findings and prognosis of Danon
disease. An analysis of the Spanish multicenter Danon registry. Rev Esp Cardiol (Engl Ed). 2018 Aug 11. pii: S1885-5857(18)30304-9. doi: 10.1016/j.rec.2018.04.035.

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