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BioMed Research International
Volume 2016 (2016), Article ID 9579654, 10 pages
Review Article

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection

1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy
2Department of Heart and Vessels, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence 50134, Italy
3Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Vicenza 36077, Italy
4S. Maria agli Ulivi Center, Fondazione Don Carlo Gnocchi, Onlus, IRCCS, Florence 50023, Italy

Received 21 December 2015; Revised 30 March 2016; Accepted 19 April 2016

Academic Editor: Peter J. Oefner

Copyright © 2016 Betti Giusti et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence. This condition may occur sporadically; nevertheless, it displays familial clustering in >20% of the cases. Family history confers a six- to twentyfold increased risk of TAAD and has to be considered in the identification and evaluation of patients needing an adequate clinical follow-up. Familial TAAD recognizes a number of potential etiologies with a significant genetic heterogeneity, in either syndromic or nonsyndromic forms of the manifestation. The clinical impact and the management of patients with TAAD differ according to the syndromic and nonsyndromic forms of the manifestation. The clinical management of TAAD patients varies, depending on the different forms. Starting from the description of patient history, in this paper, we summarized the state of the art concerning assessment of clinical/genetic profile and therapeutic management of TAAD patients.