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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Hypertrophic Cardiomyopathy with a Twist.
W Francis1, M E Alkuwari1, R Mohiaddin2
1Department of Radiology, Heart Hospital, Doha, Qatar.
The Indian Journal of Radiology & Imaging
|November 18, 2021
Summary
Hypertrophic cardiomyopathy, an inherited heart condition, and cardiac fibroma, a childhood tumor, can coexist. This case highlights the importance of advanced imaging in diagnosing complex cardiac presentations.
Area of Science:
- Cardiology
- Medical Imaging
- Pediatric Oncology
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder diagnosed initially with echocardiography.
- Cardiac fibroma is a primary cardiac neoplasm predominantly seen in children.
Observation:
- A patient presented with symptoms indicative of cardiac issues.
- Cardiac magnetic resonance imaging (CMR) was utilized for detailed investigation.
Findings:
- The patient was diagnosed with coexisting hypertrophic cardiomyopathy and cardiac fibroma.
- This dual diagnosis presented a unique clinical scenario.
Implications:
- This case underscores the utility of cardiac MRI in complex cardiac conditions.
- It emphasizes the need for comprehensive diagnostic approaches in pediatric cardiac patients.
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