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06:35
An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
Published on: February 8, 2019
Giant cell aortitis and Noonan syndrome
Shaji Menon1, Mary E Pierpont, David Driscoll
1Mayo Congenital Heart Center, Mayo Clinic, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Rochester, MN 55905, USA. menon.shaji@mayo.edu
Congenital Heart Disease
|August 22, 2008
Summary
Noonan syndrome is linked to aortic aneurysms. This case report describes giant cell aortitis in a patient with Noonan syndrome, suggesting a potential connection to bone granulomas.
Area of Science:
- Cardiovascular Pathology
- Genetics and Rare Diseases
Background:
- Noonan syndrome is a genetic disorder associated with various congenital anomalies.
- Aortic root dilatation and aneurysms are recognized complications in Noonan syndrome due to connective tissue abnormalities.
Observation:
- An 18-year-old female with Noonan syndrome presented with progressive aneurysmal dilatation of the ascending aorta.
- Histopathological analysis of the aorta revealed giant cell aortitis.
Findings:
- This is the first documented instance of giant cell aortitis occurring in an individual with Noonan syndrome.
- The findings suggest a potential link between aortic aneurysms and giant cell granuloma of bone in Noonan syndrome patients.
Implications:
- This case expands the understanding of vascular manifestations in Noonan syndrome.
- It highlights the importance of considering aortitis in Noonan syndrome patients with aortic aneurysms and may offer insights into shared pathogenetic mechanisms with giant cell granuloma of bone.
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