Rapid Aneurysmal Degeneration and Repair of Thoracic Aortic Aneurysm in a Patient with Concomitant Vascular Ehlers-Danlos and Loeys-Dietz Syndromes.

Abstract

Vascular Ehlers-Danlos (vEDS) and Loeys-Dietz syndrome 3 (LDS3) are connective tissue disorders with diverse systemic manifestations. Most notable in these disorders, though, are their aggressive aortopathies, often presenting early in life with aneurysmal disease or dissection. Herein we present the case of a 33-year-old patient, previously lost to follow-up, who underwent complex reoperative arch replacement after ascending and hemiarch replacement for Type A aortic dissection 6 years prior. Postoperative genetic testing revealed both vEDS and LDS, a unique genotype that has not been described before in the literature.