Description: Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for the connective tissue protein, fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate.
The skeleton typically displays multiple deformities including arachnodactyly (ie, abnormally long and thin digits), dolichostenomelia (ie, long limbs relative to trunk length), pectus deformities (ie, excavatum and carinatum), and thoracolumbar scoliosis. In the cardiovascular system, aortic dilation, aortic regurgitation, and aneurysms are the most worrisome clinical findings. Mitral valve prolapse requiring valve replacement can occur as well. Ocular findings include myopia, cataracts, retinal detachment, and superior dislocation of the lens.
Author: Khalid Channell, MD, Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center
Coauthor(s): Eleby R Washington III, MD, FACS, Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science
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