title: The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.
abstract: More than 30 heritable conditions are associated with thoracic aortic aneurysm and dissection (TAAD). Heritable syndromic conditions, such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome, have somewhat overlapping systemic features, but careful clinical assessment usually enables a diagnosis that can be validated with genetic testing. Nonsyndromic FTAAD can also occur and in 20%-25% of these probands mutations exist in genes that encode elements of the extracellular matrix, signalling pathways (especially involving transforming growth factor-β), and vascular smooth muscle cytoskeletal and contractile processes. Affected individuals with either a syndromic presentation or isolated TAAD can have mutations in the same gene. In this review we focus on the genes currently known to have causal mutations for syndromic and isolated FTAAD and outline the range of associated extracardiovascular and cardiovascular manifestations with each.
authors.affiliation: Division of Cardiology, Department of Paediatrics, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: timothy.bradley@sickkids.ca.
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Bradley
authors.affiliation: Division of Cardiology, Department of Paediatrics, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Bowdin
authors.affiliation: Fred A. Litwin Family Center in Genetic Medicine, Department of Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Chantal F J
authors.initials: CF
authors.lastname: Morel
authors.affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
mesh_terms: D000784:Aortic Dissection / Q000150:complications* / Q000235:genetics; D017545:Aortic Aneurysm, Thoracic / Q000150:complications* / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000209:etiology*; D005820:Genetic Testing; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000209:etiology*; D008382:Marfan Syndrome / Q000175:diagnosis / Q000209:etiology*