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Published on: July 20, 2022
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.
Abstract:
Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.
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