Transforming Growth Factor- (cid:1) A Biomarker in Marfan Syndrome?

arfan syndrome is an autosomal dominant disorder of connective tissue due to abnormal fibrillin-1 caused by mutations in the FBN1 gene on chromosome 15. Affecting 1 in (cid:1) 5000 individuals, Marfan syndrome has widespread features involving the cardiovascular system, eye, skeleton, lung, dura, and skin. After evaluation of individuals and families with Marfan syndrome over the years, it is remarkable how variable the phenotype and age of onset of various manifestations may be among affected individuals, even in the same family. Some individuals with Marfan syndrome require aortic root replacement early in childhood, whereas others may not require aortic surgery until late in life, if at all. This highlights the importance of thorough screening of all first-degree relatives of the Marfan patient, long-term follow-up, and consideration of mutation analysis for those with ambiguous features.