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.

Radiology Case Reports
|January 15, 2026
PubMed

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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