LDSwas first reported in 2005, and it is associated with mutations in the transforming growth factor
beta receptor genes (TGFRß) [15]. The vascular features include arterial tortuosity, aortic root and
peripheral arterial aneurysms. The aortopathy is more aggressive than in Marfan syndrome, and recent
guidelines have advocated a lower threshold of 40 mm for prophylactic aortic root replacement in
patients with LDS [16]. There is also an increased risk of uterine rupture.