Background

Loeys-Dietz syndrome (LDS) is a recently described genetic aortic aneurysm syndrome resulting from mutations in receptors for the cytokine transforming growth factor-beta. Phenotypic features include a bifid uvula, hypertelorism, cleft palate, and generalized arterial tortuosity, but risk of thoracic aortic rupture and dissection is the principle focus of management and exceeds that of most known connective tissue disorders. Our surgical experience with LDS was reviewed to assess outcomes and develop guidelines for management of this aggressive disease.

Methods

We retrospectively reviewed medical records of all LDS patients from two institutions and obtained follow-up data from medical records and patient contacts.

Results

Clinical criteria and genotyping were used to identify 71 patients. Before surgical intervention, 6 patients (9%) died from aneurysm rupture or dissection, which occurred in several patients with aortic diameters of less than 4.5 cm and as early as 6 months of age. Thoracic aortic aneurysm surgery was performed in 14 children and 7 adults. Operations included valve-sparing root replacement (VSRR) in 13, Bentall procedure in 5, arch replacement in 2, and VSRR with arch replacement in 1. There were no deaths at the primary operation, although 3 patients died 2, 5, and 11 years after surgery from rupture of the descending thoracic (n = 2) or abdominal aorta (n = 1).

Conclusions

LDS is an aggressive aortic aneurysm disease with a propensity toward rupture and dissection at a younger age and smaller aortic diameters than in other connective tissue disorders, particularly in the ascending aorta. Early recognition of the phenotype, prophylactic intervention, and meticulous surveillance of the distal aorta and vascular tree are warranted for optimal management.