Genetic Testing For Marfan Syndrome, Thoracic Aortic Aneurysms And Dissections, And Related Disorders

Marfan syndrome (MFS) is a systemic connective tissue disease (CTD) with a high degree of clinical variability and phenotypes overlapping with other syndromes and disorders. The diagnosis of most suspected CTDs can be based on clinical findings and family history. Some of these disorders are associated with a predisposition to the development of progressive thoracic aortic aneurysms and dissection. Accurate diagnosis of 1 of these syndromes can lead to changes in clinical management, including surveillance of the aorta, and surgical repair of the aorta, when necessary, as well as surveillance for multisystem involvement in syndromic forms of thoracic aortic aneurysms and dissection. Known pathogenic variants are associated with MFS and the other connective tissue disorders that share clinical features with MFS.