Type A Aortic Dissection Caused by Loeys-Dietz Syndrome with Novel Variation

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder that can lead to aortic aneurysm and dissection. There are 5 different types caused by mutations in TGFβR1 (transforming growth factor β receptor), TGFβR2, SMAD3, TGFβ2 (transforming growth factor β), and TGFβ3 respectively. The prevalence of LDS is estimated to be less than 1 in 100,000. There is considerable variability in the phenotype of LDS, from mild features to severe systemic abnormalities. There is overlap in the manifestations of LDS and Marfan syndrome, including increased risk of ascending aortic aneurysm and aortic dissection, as well as abnormally long limbs and fingers. Management can be very challenging with a high risk of complications with revascularization. We report a 60-year-old female who presented with a type A aortic dissection that originated from the aortic root and extended to the bilateral common femoral arteries. Genetic testing revealed a novel alteration of the TGFβR1 gene (c689 C>A in exon 4) that to our knowledge has not been previously reported or found in large population cohorts. She was managed through a Bentall procedure that was complicated by a graft tear and stenosis of the distal anastomosis site, in addition to requiring a temporary pacemaker implantation and hemodialysis after the procedure. Ultimately, the patient was able to recover fully.