Aortic distensibility in children with the Marfan syndrome

Abstract

The Marfan syndrome is a heritable disease of connective tissue, which predominantly affects the skeletal, ocular and cardiovascular systems. 1 Recent immunohistochemical and genetic findings suggest that the ultimate defect is in fibrillin, a microfibrillar protein abundant in tissues involved in Marfan syndrome. 2 Clinically and in terms of prognosis, dilatation of the aortic root is the key manifestation of the syndrome, because it predisposes the subject to the risk of aortic dissection and fatal rupture, or severe regurgitation and heart failure. 3 Although the structural abnormalities of the Marfan aorta have been well described, 1 its conduit function was poorly known until Hirata et al 4 recently reported on impaired aortic distensibility in adults with the Marfan syndrome. In the present investigation we expanded this approach by studying aortic distensibility with magnetic resonance imaging (MRI) 5 in children and adolescents with this disease.