Cardiovascular surgery in Marfan syndrome: Implications of new molecular concepts in thoracic aortic disease

Future Cardiology

Volumn 7, Issue 4, 2011, Pages 557-569

  Schoenhoff, Florian S ^a   Cameron, Duke E ^b   Matyas, Gabor ^c   Carrel, Thierry P ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

aortic aneurysm; aortic surgery; connective tissue disorders; Marfan syndrome

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; ETOMIDATE; FENTANYL; HEPARIN; ISOFLURANE; LORAZEPAM; LOSARTAN; MIDAZOLAM; PANCURONIUM; PROPOFOL; TRANEXAMIC ACID; TRANSFORMING GROWTH FACTOR BETA;

ABDOMINAL AORTA ANEURYSM; ANESTHESIA; ANEURYSM RUPTURE; ANTICOAGULANT THERAPY; AORTA ARCH; AORTA DISSECTION; AORTA GRAFT; AORTA PROSTHESIS; AORTA ROOT; AORTA VALVE REPLACEMENT; CARDIOPULMONARY BYPASS; CONTINUOUS INFUSION; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ENDOVASCULAR ANEURYSM REPAIR; GENE MUTATION; GENETIC SCREENING; HUMAN; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MITRAL VALVE REPAIR; MOLECULAR PATHOLOGY; NONHUMAN; PERIOPERATIVE PERIOD; PREGNANCY; PRIORITY JOURNAL; REOPERATION; REVIEW; SURGICAL APPROACH; SURGICAL TECHNIQUE; THORACIC AORTA ANEURYSM; TREATMENT INDICATION;

AORTIC ANEURYSM, THORACIC; BLOOD VESSEL PROSTHESIS IMPLANTATION; CARDIOVASCULAR SURGICAL PROCEDURES; HUMANS; MARFAN SYNDROME;

EID: 79961092764     PISSN: 14796678     EISSN: 17448298     Source Type: Journal    
DOI: 10.2217/fca.11.37     Document Type: Review

References (60)

1. Pyeritz RE, Gasner C. The Marfan Syndrome, 5th Edition. The National Marfan Foundation (1999).
2. Judge DP, Dietz HC. Marfan's syndrome. Lancet 366, 1965-1976 (2005). (Pubitemid 41713988)
3. Dietz HC, Cutting GR, Pyeritz RE et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337-339 (1991). (Pubitemid 21912353)
4. Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation 111, 150-157 (2005).
5. Gott VL Cameron DE, Alejo DE et al. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann. Thorac. Surg. 73, 438-443 (2002). (Pubitemid 34117385)
6. 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. Circulation. 121, e266-e369 (2010).
7. Svensson LG, Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J. Thorac. Cardiovasc. Surg. 123, 360-361 (2002). (Pubitemid 34127130)
8. Gott VL, Greene PS, Alejo DE et al. Replacement of the aortic root in patients with Marfan's syndrome. N. Engl. J. Med. 340, 1307-1313 (1999). (Pubitemid 29196592)
9. David TE, Armstrong S, Ivanov J, Feindel CM, Omran A, Webb G. Results of aortic valve-sparing operations. J. Thorac. Cardiovasc. Surg. 122, 39-46 (2001).
10. David TE, Feindel CM, Webb GD et al. Aortic valve preservation in patients with aortic root aneurysm: results of the reimplantation technique. Ann. Thorac. Surg. 83, S732-S735 (2007). (Pubitemid 46135482)
11. Patel ND, Williams JA, Barreiro CJ et al. Valve-sparing aortic root replacement: early experience with the De Paulis Valsalva graft in 51 patients. Ann. Thorac. Surg. 82, 548-553 (2006). (Pubitemid 44088649)
12. Burkhart HM, Zehr KJ, Schaff HV et al. Valve-preserving aortic root reconstruction: a comparison of techniques. J. Heart Valve Dis. 12, 62-67 (2003). (Pubitemid 36187370)
13. Zehr KJ, Matloobi A, Connolly HM et al. Surgical management of the aortic root in patients with Marfan syndrome. J. Heart Valve Dis. 14, 121-128 (2005). (Pubitemid 47050779)
14. David TE, Feindel CM. An aortic valve-sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta. J. Thorac. Cardiovasc. Surg. 103, 617-621 (1992).
15. Demers P, Miller DC. Simple modification of "T. David-V" valve-sparing aortic root replacement to create graft pseudosinuses. Ann. Thorac. Surg. 78, 1479-1481 (2004). (Pubitemid 39303894)
16. Schoenhoff FS, Loupatatzis C, Immer FF, Stoupis C, Carrel TP, Eckstein FS. The role of the sinuses of Valsalva in aortic root flow dynamics and aortic root surgery: evaluation by magnetic resonance imaging. J. Heart Valve Dis. 18, 380-385 (2009).
17. Yacoub MH, Gehle P, Chandrasekaran V, Birks EJ, Child A, Radley-Smith R. Late results of a valve-preserving operation in patients with aneurysms of the ascending aorta and root. J. Thorac. Cardiovasc. Surg. 115, 1080-1090 (1998). (Pubitemid 28224403)
18. Roubertie F, Ben Ali W, Raisky O, Tamisier D, Sidi D, Vouhe PR. Aortic root replacement in children: a word of caution about valve-sparing procedures. Eur. J. Cardiothorac. Surg. 35, 136-140 (2009).
19. Bentall H, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 23, 338-339 (1968).
20. Bachet J, Goudot B, Dreyfus G et al. Current practice in Marfan's syndrome and annulo-aortic ectasia: aortic root replacement with a composite graft over a twenty-year period. J. Card. Surg. 12, 157-166 (1997).
21. Cameron DE, Alejo DE, Patel ND et al. Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years. Ann. Thorac. Surg. 87, 1344-1349 (2009).
22. David TE, Maganti M, Armstrong S. Aortic root aneurysm: principles of repair and long-term follow-up. J. Thorac. Cardiovasc. Surg. 140, S14-S19 (2010).
23. Immer FF, Moser B, Krähenbühl ES et al. Arterial access through the right subclavian artery in surgery of the aortic arch improves neurologic outcome and mid-term quality of life. Ann. Thorac. Surg. 85, 1614-1618 (2008). (Pubitemid 351608151)
24. Borst HG, Walterbusch G, Schaps D. Extensive aortic replacement using "elephant trunk" prosthesis. J. Thorac. Cardiovasc. Surg. 31, 37-40 (1983). (Pubitemid 15087074)
25. Carrel T, Berdat P, Kipfer B et al. The reversed and bidirectional elephant trunk technique in the treatment of complex aortic aneurysms. J. Thorac. Cardiovasc. Surg. 122, 587-591 (2001). (Pubitemid 32843963)
26. Schoenhoff F, Schmidli J, Eckstein F, Berdat P, Immer F, Carrel T. The frozen elephant trunk: An interesting hybrid endovascular-surgical technique to treat complex pathologies of the thoracic aorta. J. Vasc. Surg. 45, 597-599 (2007). (Pubitemid 46281507)
27. Karck M, Chavan A, Khaladj N, Friedrich H, Hagl C, Haverich A. The frozen elephant trunk technique for the treatment of extensive thoracic aortic aneurysms: operative results and follow-up. Eur. J. Cardiothorac. Surg. 28, 286-290 (2005). (Pubitemid 41020699)
28. Engelfriet PM, Boersma E, Tijssen JG, Bouma BJ, Mulder BJ. Beyond the root: dilatation of the distal aorta in Marfan's syndrome. Heart 92, 1238-1243 (2006). (Pubitemid 44298869)
29. Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91, 728-733 (1995).
30. Girdauskas E, Kuntze T, Borger MA, Falk V, Mohr FW. Distal aortic reinterventions after root surgery in Marfan patients. Ann. Thorac. Surg. 86, 1815-1819 (2008).
31. Mimoun L, Detaint D, Hamroun D et al. Dissection in Marfan syndrome: the importance of the descending aorta. Eur. Heart J. 32, 443-449 (2011).
32. Scharfschwerdt M, Sievers HH, Greggersen J, Hanke T, Misfeld M. Prosthetic replacement of the ascending aorta increases wall tension in the residual aorta. Ann. Thorac. Surg. 83, 954-957 (2007). (Pubitemid 46331834)
33. Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J. Am. Coll. Cardiol. 55, 841-857 (2010).
34. Nordon IM, Hinchliffe RJ, Holt PJ, Morgan R, Jahangiri M, Loftus IM, Thompson MM. Endovascular management of chronic aortic dissection in patients with Marfan syndrome. J. Vasc. Surg. 50, 987-991 (2009).
35. Pyeritz R, Wappel M. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am. J. Med. 74, 797-807 (1983). (Pubitemid 13080123)
36. Hirata K, Triposkiadis F, Sparks E, Bowen J, Boudoulas H, Wooley C. The Marfan syndrome: cardiovascular physical findings and diagnostic correlates. Am. Heart J. 123, 743-752 (1992).
37. Sisk H, Zahka K, Pyeritz R. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am. J. Cardiol. 52, 353-358 (1983). (Pubitemid 13076484)
38. Fuzellier JF, Chauvaud SM, Fornes P et al. Surgical management of mitral regurgitation associated with Marfan's syndrome. Ann. Thorac. Surg. 66, 68-72 (1998). (Pubitemid 28389232)
39. Fleischer KJ, Nousari HC, Anhalt GJ, Stone CD, Laschinger JC. Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome. Ann. Thorac. Surg. 63, 1012-1017 (1997). (Pubitemid 27191653)
40. Gillinov M., Hulyalkar A., Cameron D et al. Mitral valve operations in patients with the Marfan syndrome. J. Thorac. Cardiovasc. Surg. 107, 724-731 (1994). (Pubitemid 24100450)
41. Bonow RO, Carabello BA, Chatterjee K et al.; 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease. Circulation 118, e523-e661 (2008).
42. Vaishnava P, Fuster V, Goldman M, Bonow RO. Surgery for asymptomatic degenerative aortic and mitral valve disease. Nat. Rev. Cardiol. DOI:10.1038/nrcardio.2010.203 (2011) (Epub ahead of print).
43. Carrel T, Beyeler L, Schnyder A, Zurmühle P, Berdat P, Schmidli J, Eckstein F. Reoperations and late adverse outome in Marfan patients following cardiovascular operations. Eur. J. Cardiothorac. Surg. 25, 671-675 (2004). (Pubitemid 38481975)
44. Immer F, Bansi A, Immer-Bansi A, McDougall J, Zehr K, Schaff HV, Carrel T. Aortic dissection in pregnancy: analysis of risk factors and outcome. Ann. Thorac. Surg. 76, 309-314 (2003). (Pubitemid 36819774)
45. Meijboom LJ, Vos FE, Timmermans J, Boers GH, Zwinderman AH, Mulder BJM. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur. Heart J. 26, 914-920 (2005). (Pubitemid 40676572)
46. Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 139, 4-9 (2005). (Pubitemid 41739241)
47. Neptune ER, Frischmeyer PA, Arking DE et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33, 407-411 (2003). (Pubitemid 36278859)
48. Ng CM, Cheng A, Myers LA et al. TGF-b-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J. Clin. Invest. 114, 1586-1592 (2004). (Pubitemid 40385549)
49. Habashi JP, Judge DP, Holm TM et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312, 117-121 (2006).
50. Ramirez F, Dietz HC. Extracellular microfibrils in vertebrate development and disease processes. J. Biol. Chem. 284, 14677-14681 (2009).
51. Brooke BS, Habashi JP, Judge DP et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N. Engl. J. Med. 358, 2787-2795 (2008). (Pubitemid 351930853)
52. Matt P, Schoenhoff F, Habashi J et al. Circulating transforming growth factor-β in marfan syndrome. Circulation 12, 526-532 (2009).
53. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62, 417-426 (1996). (Pubitemid 26131122)
54. Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J. Med. Genet. 47, 476-485 (2010).
55. Wang L, Guo DC, Cao J et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am. J. Hum. Genet. 87, 701-707 (2010).
56. Van de Laar IM, Oldenburg RA, Pals G et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43, 121-126 (2011).
57. Callewaert BL, De Paepe AM, Loeys BL. New insights into the pathogenesis and treatment of arterial aneurysms and dissections. Curr. Cardio Risk Rep. 5, 401-409 (2007).
58. Yetman AT, Beroukhim RS, Ivy DD, Manchester D. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics 119, e1199-202 (2007). (Pubitemid 46715696)
59. Meienberg J, Rohrbach M, Neuenschwander S et al. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur. J. Hum. Genet. 18, 1315-1321 (2010).
60. Papa LA, Tsai TT, Isselbacher EM et al., on behalf of the International Registry of Acute Aortic Dissection (IRAD) Investigators. Aortic Diameter 〉5.5 cm is not a good predictor of type A aortic dissection. Circulation 116, 1120-1127 (2007). (Pubitemid 47360214)