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Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry

Dor Lotan1, Joel Salazar-Mendiguchía2,3, Jens Mogensen4

  • 1Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (D.L., Y.W., M.A.).

Circulation. Genomic and Precision Medicine
|November 5, 2020
PubMed

Insights

Danon disease, a severe X-linked condition, presents earlier and more aggressively in men. While cardiac issues are similar, women face diagnostic challenges due to diverse symptoms, impacting Danon disease prognosis.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Danon disease is an X-linked genetic disorder causing severe cardiomyopathy, myopathy, and neurological issues.
  • Characterized by progressive cardiac and extracardiac manifestations, its clinical spectrum varies significantly.

Purpose of the Study:

  • To establish a comprehensive registry of clinical presentations and outcomes for Danon disease patients across European cardiomyopathy centers.
  • To analyze differences in disease progression and management between male and female patients.

Main Methods:

  • Prospective data collection from 16 cardiology centers in 8 European countries.
  • Inclusion of clinical and genetic data from 57 patients (30 male, 27 female) diagnosed with Danon disease.

Main Results:

  • Cardiac involvement was high (96%), with similar rates of left ventricular hypertrophy but varying systolic dysfunction between sexes.
  • Men presented earlier with heart failure and had a higher risk of adverse outcomes, though heart transplantation rates were equal.
  • Extracardiac manifestations were more prominent in men, complicating diagnosis in women.

Conclusions:

  • Danon disease exhibits an earlier onset and malignant course in men, while women present diagnostic challenges due to phenotypic diversity.
  • Despite similarities in cardiomyopathy features, heart failure, and arrhythmia, management requires sex-specific considerations.
  • Early heart failure hospitalization and LV systolic dysfunction are key indicators of poor prognosis in Danon disease.
Abstract

Keywords:
cardiomyopathiesheart failurehypertrophymetabolicsex characteristics

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