title: Practical genetics of thoracic aortic aneurysm.
abstract: This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational "RNA Signature" test that we have been developing at Yale.
authors.affiliation: Aortic Institute at Yale-New Haven, Yale University School of Medicine, New Haven, CT 06510, USA. john.elefteriades@yale.edu
authors.forename: John A
authors.initials: JA
authors.lastname: Elefteriades
authors.forename: Pawel
authors.initials: P
authors.lastname: Pomianowski
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000784:Aortic Dissection / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D005260:Female; D020869:Gene Expression Profiling; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors; D055815:Young Adult
chemical_list: D005819:Genetic Markers
keywords: Aneurysm; Aortic dissection; Bicuspid aortic valve; Genetics; IMT; MMPs; Marfan disease; Mutations; intimal–medial thickness; matrix metalloproteinases