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Updated: Jan 16, 2026

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Aortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome
Hajra Arshad1, Elliot K Fishman1
1The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, 601 N Caroline St, Baltimore, MD 21287, USA.
Abstract:
Singleton Merten Syndrome (SMS) is a rare autosomal dominant disorder caused by IFIH1 or DDX58 mutations, characterized by chronic inflammation leading to vascular calcifications, valvular disease, musculoskeletal abnormalities, dental dysplasia, skin findings like psoriasis and glaucoma. We report an 8-year-old boy with a DDX58 mutation associated SMS who presented with difficulty walking and ankle pain, found to have extensive aortoiliac and mesenteric artery narrowing. Advanced imaging with computed tomography (CT) and cinematic rendering provided detailed vascular mapping, underscoring the importance of radiologic evaluation in detecting and evaluating the extent of vascular involvement in SMS.
Insights
Singleton Merten Syndrome (SMS) is a rare genetic disorder causing inflammation and vascular issues. This case highlights extensive arterial narrowing in an 8-year-old boy with a DDX58 mutation, emphasizing the need for advanced imaging.
Area of Science:
- Genetics and rare diseases
- Cardiovascular medicine
- Radiology
Background:
- Singleton Merten Syndrome (SMS) is a rare autosomal dominant disorder.
- It is associated with chronic inflammation, leading to vascular calcifications, valvular disease, and other abnormalities.
- Mutations in IFIH1 or DDX58 genes are known causes of SMS.
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