Denouement and Discussion
Infantile Marfan Syndrome
Manifestations
Marfan syndrome is a heritable disorder of connective tissue with abnormalities affecting the skin and musculoskeletal, cardiac, pulmonary, ocular, and central nervous systems. The manifestations of the disease vary. The infantile form is infrequently diagnosed, and it is not generally recognized that severe cardiac abnormalities may be present at birth. In one series of 22 severely affected infants whose conditions were diagnosed in the first 3 months of life, 82% had severe cardiac abnormalities.1Involvement of the cardiovascular system is one of the most characteristic features of Marfan syndrome. Heart lesions develop as a result of progressive widening of the aortic root and mitral annulus. Mitral valve prolapse, often with regurgitation, and aortic valve incompetence occur in 80% to 100% of affected individuals and they, along with aortic dissection, are responsible for 90% of deaths related to this disorder.2,3