Marfan syndrome: 30 years of research equals 30 years of additional life expectancy

Heart

Volumn 95, Issue 3, 2009, Pages 173-175

  Pyeritz, Reed E ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DOXYCYCLINE; ENALAPRIL; FIBRILLIN 1; LOSARTAN; PERINDOPRIL; VERAPAMIL;

AORTA VALVE REGURGITATION; CLINICAL TRIAL; DRUG EFFECT; DRUG EFFICACY; FBN1 GENE; GENE; GENE MUTATION; HEART ARRHYTHMIA; HUMAN; LIFE EXPECTANCY; MARFAN SYNDROME; MITRAL VALVE REGURGITATION; NONHUMAN; PRIORITY JOURNAL; REVIEW;

AGE FACTORS; BIOMEDICAL RESEARCH; DISEASE PROGRESSION; HEART VALVE DISEASES; HUMANS; LIFE EXPECTANCY; MARFAN SYNDROME;

EID: 62149149904     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2008.160515     Document Type: Review

References (33)

1. Pyeritz RE. Marfan syndrome and related disorders. In: Rimoin DL, Conner JM, Pyeritz RE, et al., eds Principles and practice of medical genetics. 5th ed. Philadelphia: Churchill Livingstone, 2007:3579-624.
2. Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation 2008;117:2802-13.
3. Yetman AT, Bornemeier RA, McCrindle BW. Longterm outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death. J Am Coll Cardiol 2003;41:329-32.
4. Chow K, Pyeritz RE, Litt HI. Abdominal visceral findings in patients with Marfan syndrome. Genet Med 2007;9:208-12.
5. Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804-8.
6. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in TGF-β receptor. N Engl J Med 2006;355:788-98.
7. 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.
8. Pyeritz RE, Wappel MA. Mitral valve dysfunction in the Marfan syndrome. Am J Med 1983;74:797-807.
9. Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed less than 4 years of age. Am J Cardiol 1983;52:353-8.
10. Silverman Dl, Gray J, Roman MJ, et al. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol 1995;26:1062-7.
11. Bentall H, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 1968;23:338-9.
12. Gott VL, Greene PS, Alejo DE, et al. Surgery for ascending aortic disease in Marfan patients: a multicenter study. N Engl J Med 1999;340:1307-13.
13. LeMaire SA, Carter SA, Volguina IV, et al. Spectrum of aortic operations in 300 patients with confirmed or suspected Marfan syndrome. Ann Thorac Surg 2006;81:2063-78.
14. Settepani F, Szeto WY, Pacini D, et al. Reimplantation valve-sparing aortic root replacement in Marfan syndrome using the Valsalva conduit : an intercontinental multicenter study. Ann Thorac Surg 2007;83:S769-73.
15. 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 2007;83:S732-5.
16. Gillinov AM, Hulyalkar A, Cameron DE, et al. Mitral valve operation in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 1994;107:724-31.
17. Shores J, Berger KR, Murphy EA, et al. Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: a prospective, randomized trial of propranolol. N Engl J Med 1994;330:1335-41.
18. Ladouceur M, Fermanian C, Lupoglazoff JM, et al. Effect of β-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol 2007;99:406-9.
19. Rossi-Foulkes R, Roman MJ, Rosen SE, et al. Phenotypic features and impact of β blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 1999;83:1364-8.
20. Rossiter JP, Morales AJ, Repke JT, et al. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol 1995;173:1599-606.
21. Tierney ES, Feingold B, Printz BF, et al. β-Blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr 2007;150:77-82.
22. Gersony DR, McClaughlin MA, Jin Z, et al. The effect of β blocker therapy on clinical outcome in patients with Marfan's syndrome: a meta-analysis. Int J Cardiol 2006;114:303-8.
23. Yetman AT, Bornemeier RA, McCrindle BW. Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol 2005;95:1125-7.
24. Ahimastos AA, Aggarwal A, D'Orsa KM, et al. Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome. JAMA 2007;298:1539-47.
25. Ikonomidis JS, Jones JA, Barbour JR, et al. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Circulation 2006;114(Suppl):1365-70.
26. Chung AWY, Yeung KA, Sandor GGS, et al. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Circ Res 2007;101:512-22.
27. Chung AWY, Yang HHC, Radomski MW, et al. Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in Marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9. Circ Res 2008;102:e73-85.
28. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-11.
29. Ng CM, Cheng A, Myers LA, et al. TGF-β dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004;114:1586-92.
30. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21.
31. Brooke BS, Habashi JP, Judge DP, et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med 2008;358:2787-95.
32. Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of β blocker therapy (atenolol) vs. angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154:624-31.
33. Pyeritz RE. A small-molecule for a large disease [editorial]. N Engl J Med 2008;358:2829-31.