Overview
Clinical Meaning
Marfan syndrome is autosomal dominant connective tissue disorder from FBN1 (fibrillin 1) gene mutations on chromosome 15.
Marfan syndrome is autosomal dominant connective tissue disorder from FBN1 (fibrillin-1) gene mutations on chromosome 15. Ghent nosology for diagnosis. Clinical features: skeletal (tall stature, arachnodactyly, pectus, scoliosis), ocular (lens subluxation upward, myopia, retinal detachment), cardiovascular (aortic root dilation, MVP, aortic dissection). Aortic root monitoring with annual echo. Beta-blockers or ARBs to reduce aortic wall stress. Prophylactic aortic root replacement when diameter reaches 5.0cm (or 4.5cm with risk factors). Avoid contact sports, isometric exercise.
