Marfan syndrome Cardiopulmonary physiology Biology essay
FBN1-related Marfan syndrome, Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, encompasses a broad phenotypic continuum ranging from mild features of Marfan syndrome in one or a few systems to severe and rapidly progressive neonatal multi -organ disease. Cardinal manifestations, Marfan syndrome MFS is one of the most common hereditary disorders of connective tissue. 1, 2 It is an autosomal dominant disorder with a reported incidence in individuals. There is a wide range of clinical severity associated with MFS, with classic ocular, cardiovascular and musculoskeletal abnormalities, while some Abstract. Much has changed in recent decades regarding Marfan syndrome MFS. Once described solely as an inherited connective tissue disorder, MFS is now one of a number of conditions recognized to be a disorder of abnormal signaling in the TGF-β pathway. The main features of MFS, once encompassed by the ocular syndrome, Marfan syndrome. MFS is a rare inherited autosomic disorder involving a variety of systemic manifestations caused by mutations in the fibrilllin gene FBN1. The main clinical phenotypes of MFS are highly variable in terms of severity, and often involve cardiovascular, ocular and musculoskeletal systems. Marfan syndrome MFS is an autosomal dominant connective tissue disease that primarily affects the ocular, skeletal and cardiovascular systems 1, 2. Significant phenotypic variability of MFS is often observed between affected members of different families and even between affected members within one family,