title: Recent progress in understanding the natural and clinical histories of the Marfan syndrome.
abstract: Over the past 4 decades, remarkable progress in understanding the cause, pathogenesis, and management of the MFS has led to an increase in life expectancy to near normal for most patients. Accompanying this increased life span has been the emergence of previously rare or unanticipated clinical problems. Despite much more detailed knowledge of the molecular, cellular, and tissue effects of a mutation in FBN1, targeted, effective therapy remains elusive. Until such precision medicine takes hold, management will depend on early diagnosis, regular scrutiny by imaging, chronic β-blockade, and perhaps ARBs, and prophylactic cardiothoracic surgery. Without question, MFS will remain a fertile subject for basic, translational, and clinical research for the foreseeable future.
authors.affiliation: Departments of Medicine and Genetics, Smilow Center for Translational Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address: reed.pyeritz@uphs.upenn.edu.
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
mesh_terms: D000818:Animals; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006348:Cardiac Surgical Procedures; D002317:Cardiovascular Agents / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D018450:Disease Progression; D000071838:Fibrillin-1 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors; D054392:Adipokines
chemical_list: D002317:Cardiovascular Agents; D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: Aortic aneurysm; Fibrillin; Transforming growth factor-beta