Cardiac magnetic resonance imaging in Danon disease

Gaetano Nucifora, Daniela Miani, Gianluca Piccoli, Alessandro Proclemer

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Danon disease is a rare X-linked dominant metabolic disorder caused by a primary deficiency in lysosome-associated membrane protein 2. It is characterized by the development of cardiac disease, skeletal myopathy and cognitive disorder. Due to the rarity of Danon disease, physicians may be unfamiliar with the phenotype, confusing it with hypertrophic cardiomyopathy or other causes of left ventricular hypertrophy. The present report demonstrates the clinical value of cardiac magnetic resonance imaging for the diagnostic work-up of Danon disease.

LanguageEnglish
Pages27-30
Number of pages4
JournalCardiology
Volume121
Issue number1
DOIs
Publication statusPublished - Mar 2012
Externally publishedYes

Keywords

  • Danon disease
  • Hypertrophic cardiomyopathy
  • Magnetic resonance imaging

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pharmacology (medical)

Cite this

Nucifora, G., Miani, D., Piccoli, G., & Proclemer, A. (2012). Cardiac magnetic resonance imaging in Danon disease. Cardiology, 121(1), 27-30. https://doi.org/10.1159/000336448