Familial visceral branch artery aneurysms in Loeys-Dietz syndrome

Michelle S. Lim, Kacie Steinbrecher, Andrew W. Koefoed, Alan C. Braverman

Research output: Contribution to journalArticlepeer-review


Loeys-Dietz syndrome (LDS) is an autosomal dominant heritable disorder due to pathogenic variants in one of several genes involved in TGF-β (transforming growth factor-beta) signalling. LDS is associated with aortic aneurysm and dissection. LDS may also lead to extra-aortic aneurysms, the majority of which occur in the head and neck vasculature. Visceral aneurysms are uncommon, and no cases of distal superior mesenteric artery (SMA) branch aneurysms in patients with LDS have been reported. Three related females with TGFBR1-related LDS developed distal SMA branch artery aneurysms involving the ileocolic and jejunal arteries. Endovascular or surgical intervention was performed in each. The presence and severity of arterial, craniofacial, and cutaneous features of LDS in these patients are variable. TGFBR1-related LDS may rarely lead to SMA branch artery aneurysms that can develop later in life. Surgical and endovascular procedures can successfully treat these aneurysms, but data to guide size thresholds and optimal treatment strategies are lacking.

Original languageEnglish
Article numbere256836
JournalBMJ Case Reports
Issue number1
StatePublished - Jan 10 2024


  • Cardiovascular medicine
  • Genetics
  • Vascular surgery


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