title: The genetic basis of aortic aneurysm.
abstract: Gene identification in human aortic aneurysm conditions is proceeding at a rapid pace and the integration of pathogenesis-based management strategies in clinical practice is an emerging reality. Human genetic alterations causing aneurysm involve diverse gene products including constituents of the extracellular matrix, cell surface receptors, intracellular signaling molecules, and elements of the contractile cytoskeleton. Animal modeling experiments and human genetic discoveries have extensively implicated the transforming growth factor-β (TGF-β) cytokine-signaling cascade in aneurysm progression, but mechanistic links between many gene products remain obscure. This chapter will integrate human genetic alterations associated with aortic aneurysm with current basic research findings in an attempt to form a reconciling if not unifying model for hereditary aortic aneurysm.
authors.affiliation: Massachusetts General Hospital Thoracic Aortic Center, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Mark E
authors.initials: ME
authors.lastname: Lindsay
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 Howard Hughes Medical Institute, Baltimore, Maryland 21205.
authors.forename: Harry C
authors.initials: HC
authors.lastname: Dietz
mesh_terms: D000818:Animals; D001014:Aortic Aneurysm / Q000235:genetics*; D016207:Cytokines / Q000096:biosynthesis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D018450:Disease Progression; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D015398:Signal Transduction / Q000235:genetics
chemical_list: D016207:Cytokines; D004247:DNA