Cardiovascular magnetic resonance findings in a case of Danon disease

Dorota Piotrowska-Kownacka1, Lukasz Kownacki, Marek Kuch

  • 1II Department of Radiology, Medical University of Warsaw, Warsaw, Poland. dpiotrowska@tlen.pl

Insights

Danon disease, a rare genetic disorder, can cause severe heart problems. Cardiovascular magnetic resonance imaging effectively evaluated cardiac involvement in a patient with this condition.

Area of Science:

  • Genetics and rare diseases
  • Cardiology
  • Medical imaging

Background:

  • Danon disease is an X-linked dominant lysosomal glycogen storage disorder.
  • It is characterized by progressive cardiac hypertrophy and heart failure.
  • Early diagnosis and management are crucial for patient outcomes.

Observation:

  • A case of Danon disease presenting with significant cardiac involvement was studied.
  • Cardiovascular magnetic resonance (CMR) was utilized for comprehensive evaluation.
  • Advanced CMR techniques, including late gadolinium enhancement and perfusion imaging, were employed.

Findings:

  • CMR provided detailed insights into the extent and nature of cardiac pathology.
  • Late gadolinium enhancement identified areas of myocardial fibrosis.
  • Perfusion studies assessed myocardial blood flow, revealing potential ischemic changes.

Implications:

  • This case highlights the utility of CMR in diagnosing and characterizing cardiac manifestations of Danon disease.
  • Advanced imaging can aid in risk stratification and treatment planning for affected individuals.
  • Further research into imaging biomarkers for Danon disease is warranted.

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