Two-staged repair of a giant iliac aneurysm and open repair of a true deep femoral artery aneurysm in Loeys-Dietz syndrome type V: a case report and review of literature.

Background: The syndrome of Loeys-Dietz (LDS) is a rare connective tissue disorder. A classic triad of symptoms is seen: hypertelorism, atypical uvula or clef palate, and multiple tortuous arteries and aneurysms of the aorta and main arterial branches. Mutations in genes involving the transforming growth factor-beta (TGFB) signaling pathway are the cause of this syndrome. There are six subtypes of LDS, categorized based on the gene mutation that is involved. LDS type V and VI, concerning the TGFB3 and SMAD2 gene respectively, are the two subtypes that are least frequently seen. Mostly, in the patients with LDS type V non-cardiovascular symptoms are most prominent and there is a lower prevalence of vascular abnormalities.

Methods and results: This case report illustrates extensive vascular disease in Loeys-Dietz syndrome type V. We present open repair of a true deep femoral artery aneurysm and two-staged repair of a giant common iliac aneurysm with coiling of an ipsilateral internal iliac artery aneurysm and subsequent endovascular aortic repair (EVAR).

Conclusion: Loeys-Dietz syndrome type V is a rare connective tissue disorder, that was thought to have non-cardiovascular symptoms at the forefront. However, this case represents multiple vascular abnormalities, including arterial tortuosity and iliac and femoral artery aneurysms, as the main symptom in LDS type V, presents our multi-stage treatment and discusses the different therapeutic strategies.