Marfan Syndrome and Related Disorders

Marfan syndrome is the best known of the hereditary aortopathies, but its clinical variability and multisystem involvement often make diagnosis and management challenging. The skeletal and ocular findings overlap with other conditions, but FBN1 genetic testing and clinical assessment using the Ghent nosology is recommended. Loeys Dietz Syndrome is a related aortopathy, associated with changes in other genes in the same pathway (TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2). Features such as cleft palate, bifid uvula, hypertelorism, craniosynostosis and osteoarthritis and the absence of ectopia lentis suggest Loeys Dietz. Trial evidence suggests that beta-blockers and angiotensin 2 receptor blockers delay dilatation of the Marfan aorta. Regular imaging is required to determine the timing of prophylactic aortic root surgery. Management of Loeys Dietz Syndrome follows similar principles, except that drug therapy has not been proven in trials, and more widespread imaging of the arterial tree and earlier surgery is recommended.