The new Ghent criteria of 2010 in the indication for cardiac surgery intervention in patients with Marfan syndrome. The experience of a single cardiac surgery center;I nuovi criteri di Ghent del 2010 nell'indicazione all'intervento cardiochirurgico nei pazienti affetti da sindrome di Marfan. L'esperienza di un singolo Centro di Cardiochirurgia

Giornale Italiano di Cardiologia

Volumn 14, Issue 7, 2013, Pages 548-554

  Grego, Susanna ^a   Nardi, Paolo ^a   Gislao, Valentina ^a   Nicolò, Francesca ^a   D'Annolfo, Antonella ^a   Marcucci, Rosaria ^a   Bovio, Emanuele ^a   Versaci, Francesco ^a   Chiariello, Luigi ^a  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Cardiac surgery; Marfan syndrome

Indexed keywords

ACUTE DISEASE; AORTA DISSECTION; AORTIC ROOT SURGERY; ARTICLE; BENTALL PROCEDURE; DAVID PROCEDURE; HEART SURGERY; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MITRAL VALVE REPAIR; YACOUB REMODELING PROCEDURE;

ADOLESCENT; ADULT; ANEURYSM, DISSECTING; ANTIHYPERTENSIVE AGENTS; AORTA; AORTIC ANEURYSM; AORTIC VALVE; CHILD; EMERGENCIES; FEMALE; GENETIC COUNSELING; HOSPITALS, UNIVERSITY; HUMANS; ITALY; MALE; MARFAN SYNDROME; MITRAL VALVE; PRACTICE GUIDELINES AS TOPIC; RETROSPECTIVE STUDIES; SYMPTOM ASSESSMENT; YOUNG ADULT;

EID: 84880894908     PISSN: 18276806     EISSN: 19726481     Source Type: Journal    
DOI: 10.1714/1308.14463     Document Type: Article

References (25)

1. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
2. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992;326:905-9.
3. Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGFlike domains. Hum Mutat 1992;1:366-74.
4. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4(Spec No):1799- 809.
5. Pereira L, Levran O, Ramirez F, et al. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med 1994;331:148-53.
6. Collod-Béroud G, Béroud C, Ades L, et al. Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998;26:229-33.
7. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 2001;161:2447-54.
8. Judge DP, Biery NJ, Dietz HC. Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. Am J Med Genet 2001; 99:39-47.
9. Beighton P, de Paepe A, Danks D, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 1988;29:581-94.
10. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26.
11. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476- 85.
12. Murphy-Ryan M, Psychogios A, Lindor NM. Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis. Genet Med 2010;12:344-54.
13. Van Laer L, Proost D, Loeys BL. Educational paper: Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr 2012 Jul 17 [Epub ahead of print].
14. Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/ SCA/ SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010;121:e266-369.
15. Svensson LG, Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J Thorac Cardiovasc Surg 2002;123:360-1.
16. Lang RM, Bierig M, Devereux RB, et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440-63.
17. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64: 507-12.
18. Bentall H, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 1968;23:338-9.
19. Yacoub MH, Fagan A, Stassano P, Radley-Smith R. Results of valve conserving operations for aortic regurgitation. Circulation 1983;68:311-2.
20. David TE, Feindel CM. An aortic valvesparing operation for patients with aortic incompetence and aneurysm of the ascending aorta. J Thorac Cardiovasc Surg 1992;103:617-21.
21. de Oliveira NC, David TE, Ivanov J, et al. Results of surgery for aortic root aneurysm in patients with Marfan syndrome. J Thorac Cardiovasc Surg 2003;125:789-96.
22. David TE, Armstrong S, Maganti M, Colman J, Bradley TJ. Long-term results of aortic valve-sparing operations in patients with Marfan syndrome. J Thorac Cardiovasc Surg 2009;138:859-64.
23. David TE, Feindel CM, Webb GD, Colman JM, Armstrong S, Maganti M. Longterm results of aortic valve-sparing operations for aortic root aneurysm. J Thorac Cardiovasc Surg 2006;132:347-54.
24. Tambeur L, David TE, Unger M, Armstrong S, Ivanov J, Webb G. Results of surgery for aortic root aneurysm in patients with the Marfan syndrome. Eur J Cardiothorac Surg 2000;17:415-9.
25. Jondeau G, Detaint D, Tubach F, et al. Aortic event rate in the Marfan population: a cohort study. Circulation 2012;125:226- 32.