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...