Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome

被引:41
作者
Nistri, Stefano [1 ,2 ]
Porciani, Maria Cristina [1 ,3 ]
Attanasio, Monica [1 ,3 ]
Abbate, Rosanna [1 ,3 ]
Gensini, Gian Franco [1 ,3 ,4 ]
Pepe, Guglielmina [1 ,3 ]
机构
[1] Univ Florence, Dept Med & Surg Crit Care, Ctr Study Mol & Clin Level Chron Degenerat & Neop, I-50134 Florence, Italy
[2] CMSR Veneto Med, Serv Cardiol, Altavilla Vicentina, Italy
[3] Univ Florence, Azienda Osped Univ Careggi, Dept Heart & Vessels, I-50134 Florence, Italy
[4] IRCCS, Fdn Don Carlo Gnocchi, S Maria Ulivi Ctr, Florence, Italy
关键词
Marfan syndrome; Bicuspid aortic valve; Thoracic aortic aneurysm; FBN1; MUTATIONS; DILATION; DISSECTION; DISORDERS; CRITERIA; CHILDREN; DISEASE;
D O I
10.1016/j.ijcard.2011.12.009
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:324 / 325
页数:2
相关论文
共 19 条
[1]  
Amezcua-Guerra L, 2010, REV INVEST CLIN, V62, P39
[2]   Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation [J].
Arrington, Carnmon B. ;
Sower, C. Todd ;
Chuckwuk, Naormi ;
Stevens, Jeff ;
Leppert, Mark F. ;
Yetman, Anji T. ;
Bowles, Neil E. .
AMERICAN JOURNAL OF CARDIOLOGY, 2008, 102 (05) :629-631
[3]   FBN1 mutation screening of patients with Marfan syndrome and related disorders:: detection of 46 novel FBN1 mutations [J].
Attanasio, M. ;
Lapini, I. ;
Evangelisti, L. ;
Lucarini, L. ;
Giusti, B. ;
Porciani, M. C. ;
Fattori, R. ;
Anichini, C. ;
Abbate, R. ;
Gensini, G. F. ;
Pepe, G. .
CLINICAL GENETICS, 2008, 74 (01) :39-46
[4]   An echocardiographic survey of primary school children for bicuspid aortic valve [J].
Basso, C ;
Boschello, M ;
Perrone, C ;
Mecenero, A ;
Cera, A ;
Bicego, D ;
Thiene, G ;
De Dominicis, E .
AMERICAN JOURNAL OF CARDIOLOGY, 2004, 93 (05) :661-663
[5]   A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome [J].
De Backer, Julie ;
Loeys, Bart ;
Devos, Dan ;
Dietz, Harry ;
De Sutter, Johan ;
De Paepe, Anne .
GENETICS IN MEDICINE, 2006, 8 (07) :401-408
[6]  
DePaepe A, 1996, AM J MED GENET, V62, P417, DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO
[7]  
2-R
[8]   Vascular matrix remodeling in patients with bicuspid aortic valve malformations: Implications for aortic dilatation [J].
Fedak, PWM ;
de Sa, MP ;
Verma, S ;
Nili, N ;
Kazemian, P ;
Butany, J ;
Strauss, BH ;
Weisel, RD ;
David, TE .
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 2003, 126 (03) :797-806
[9]   Mutations in NOTCH1 cause aortic valve disease [J].
Garg, V ;
Muth, AN ;
Ransom, JF ;
Schluterman, MK ;
Barnes, R ;
King, IN ;
Grossfeld, PD ;
Srivastava, D .
NATURE, 2005, 437 (7056) :270-274
[10]   Transforming Growth Factor-Beta Receptor Type II Mutation in a Patient With Bicuspid Aortic Valve Disease and Intraoperative Aortic Dissection [J].
Girdauskas, Evaldas ;
Schulz, Solveig ;
Borger, Michael A. ;
Mierzwa, Marco ;
Kuntze, Thomas .
ANNALS OF THORACIC SURGERY, 2011, 91 (05) :E70-E71