A Rare Case of Autosomal Recessive Cutis Laxa Type Ib in a Young Girl with Arterial Aneurysms and Successful Valve Sparing Root and Aortic Arch Replacement

Background: Autosomal recessive cutis laxa type Ib is a rare and often perinatally lethal syndrome caused by mutations in the EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) gene, leading to a reduced secretion of fibulin-4 which is essential for elastogenesis within cross-linking of collagen and elastin. This loss-off function mechanism leads to reduced and disrupted elastic fibers with extreme tortuosity and fusiform dilatations of nearly all large and medium sized arteries and veins. We describe the case of a 15-year-old girl from a consanguine family with a diagnosis of a giant ascending aortic aneurysm (45 mm) at 1 year of age when a Yacoub's valve sparing root replacement (VSRR) was performed. She presented 14 years later with marked left ventricular hypertrophy, a stenotic aortic conduit and anteposition of her significantly tortuoused head and neck arteries. The succeeding aortic arch was severely dilated (40 mm). Remarkably, her brother died suddenly in infancy with postmortem diagnosis of a giant ascending aneurysm and aortic coarctation.