A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.
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.
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy; Department of Heart and Vessels, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence 50134, Italy.
Betti
B
Giusti
Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Vicenza 36077, Italy.
Stefano
S
Nistri
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy; Department of Heart and Vessels, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence 50134, Italy.
Elena
E
Sticchi
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy; Department of Heart and Vessels, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence 50134, Italy.
Rosina
R
De Cario
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy.
Rosanna
R
Abbate
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy; S. Maria agli Ulivi Center, Fondazione Don Carlo Gnocchi, Onlus, IRCCS, Florence 50023, Italy.
Gian Franco
GF
Gensini
Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence 50134, Italy; Department of Heart and Vessels, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence 50134, Italy.
Guglielmina
G
Pepe
D000784:Aortic Dissection / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D016022:Case-Control Studies; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007558:Italy; D008487:Medical History Taking / Q000379:methods