Marfan's syndrome and the heart

Archives of Disease in Childhood

Volumn 92, Issue 4, 2007, Pages 351-356

  Stuart, Alan Graham ^a,b   Williams, Andrew ^c  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^b Bristol Congenital Heart Centre   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM ANTAGONIST; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

CARDIOVASCULAR DISEASE; CLINICAL FEATURE; ECHOCARDIOGRAPHY; FOLLOW UP; HEART SURGERY; HUMAN; INCIDENCE; LIFESTYLE MODIFICATION; MARFAN SYNDROME; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SIGNAL TRANSDUCTION; SUDDEN DEATH;

ADRENERGIC BETA-ANTAGONISTS; AORTIC VALVE; DILATATION, PATHOLOGIC; FEMALE; HEART DEFECTS, CONGENITAL; HEART VALVE PROSTHESIS IMPLANTATION; HUMANS; INFANT; INFANT, NEWBORN; MARFAN SYNDROME;

EID: 34047202618     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2006.097469     Document Type: Review

References (79)

1. Marfan AB. Un cas de deformation congenitale des quatre membres, plus prononce aux extremetes, characterise par l'allongement des os avec un certain degre d'amincissement. Bull Mem Soc Med Hop (Paris) 1896;13:220-6.
2. Salle V. Ueber einen fall von angeborner abnormen Grosse der Extremitaten mit einen an Akronemegalia erinerden Symptomenkomplex. Jahrb Kinderkeilk 1912;75:540-50.
3. Pyeritz RE. The Marfan syndrome. Annu Rev Med 2000;51:481-510.
4. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005;366:1965-76.
5. Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 1991;9:355-61.
6. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
7. Ramirez F, Rifkin DB. Cell signaling events: a view from the matrix. Matrix Biol 2003;22:101-7.
8. Boileau C, Jondeau G, Mizuguchi T, et al. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005;20:194-200.
9. Dietz HC, Loeys B, Carta L, et al. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005;139:4-9.
10. Robinson PN, Arteaga-Solis E, Baldock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006;43:769-87.
11. Stuart AG, Wilson DG. Marfan syndrome: is early diagosis useful? Curr Paediatr 1998;8:121-5.
12. Dean JC. Management of Marfan syndrome. Heart 2002;88:97-103.
13. Godfrey M. The Marfan syndrome. In: Beighton P, eds. McKusick's heritable disorders of connective tissue. St Louis: Mosby, 1993:51-135.
14. DePaepe A, Devereux RB, Dietz H, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26.
15. Koenigsberg M, Factor S, Cho S, et al. Fetal Marfan syndrome: prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions. Prenat Diagn 1981;1:241-7.
16. Lipscomb KJ, Clayton-Smith J, Harris R. Evolving phenotype of Marfan's syndrome. Arch Dis Child 1997;76:41-6.
17. Anonymous. American Academy of Pediatrics - Committee on genetics. Health supervision for children with Marfan syndrome. Pediatrics 1996;98:978-82.
18. Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005;139:1.
19. ter Heide H, Schrander-Stumpel CT, Pals G, et al. Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorphol 2005;14:81-4.
20. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
21. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. New Engl J Med 2006;355:788-98.
22. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-[beta] receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005;112:513-20.
23. Tsai-Goodman B, Wilson DG, Davies S, et al. ECG abnormalities in children with Marfan syndrome: is QT dispersion a useful measurement of arrhythmogenicity? Cardiol Young 2001;11(Suppl 1):309.
24. Chen S, Fagan LF, Nouri S, et al. Ventricular dysrhythmias in children with Marfan's syndrome. Am J Dis Child 1985;139:273-6.
25. Savolainen A, Kupari M, Toivonen L, et al. Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome. J Intern Med 1997;241:221-6.
26. Robinson TF, Cohen-Gould L, Remily RM, et al. Extracellular structures in heart muscle. Adv Myocardiol 1985;5:243-55.
27. Savolainen A, Nisula L, Keto P, et al. Left ventricular function in children with the Marfan syndrome. Eur Heart J 1994;15:625-30.
28. Cattaneo SM, Bethea BT, Alejo DE, et al. Surgery for aortic root aneurysm in children: a 21-year experience in 50 patients. Ann Thorac Surg 2004;77:168-76.
29. Hirata K, Triposkiadis F, Sparks E, et al. The Marfan syndrome: cardiovascular physical findings and diagnostic correlates. Am Heart J 1991;123:743-51.
30. Pyerilz R, Wappel MA. Mitral valve dysfunction in the marfan syndrome. Clinical and echocardiographic study of prevalence and naturel history. Am J Med 1983;74:797-807.
31. Geva T, Hegesh J, Frand M. The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child 1987;141:1179-82.
32. Groenink M, Mulder BJ. Severe cardiovascular features of marfan syndrome in childhood: just another manifestation or a specific entity? Int J Cardiovasc Imaging 2004;20:269-70.
33. Wilson DG, Bellamy MF, Ramsey MW, et al. Endothelial function in Marfan syndrome: selective impairment of flow-mediated vasodilation. Circulation 1999;99:909-15.
34. Meijboom LJ, Timmermans J, van Tintelen JP, et al. Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation. Am J Cardiol 2005;95:795-7.
35. Imakita M, Yutani C, Ishibashi-Ueda H, et al. Chronic dissecting aneurysm of the isolated coronary artery with hemorrhagic myocardial infarction: a rare complication of cardiac operation in a female with Marfan's syndrome. Heart Vessels 1990;5:243-6.
36. Nollen GJ, Van Schijndel KE, Timmermans J, et al. Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Heart 2002;87:470-1.
37. Hirata K, Triposkiadis F, Sparks E, et al. The Marfan syndrome: abnormal elastic properties. J Am Coll Cardiol 1991;18:57-63.
38. Morse RP, Rockenmacher S, Pyeritz R, et al. Diagnosis and management of infantile Marfan syndrome. Pediatrics 1990;86:888- 95.
39. Radford DJ, Izukawa T. Atrial fibrillation in children. Pediatrics 1977;59:250-6.
40. Johnson CD. The Wolff-Parkinson-White syndrome associated with Marfan's syndrome. Bol Asoc Med P R 1989;81:361-4.
41. Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol 2003;41:329-32.
42. De Backer JF, Devos D, Segers P, et al. Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol 2006;112:353-8.
43. Roman MJ, Devereux RB, Kramer-Fox R, et al. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-12.
44. Rozendaal L, Groenink M, Naeff MS, et al. Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation. Heart 1998;79:69-72.
45. Groenink M, Rozendaal L, Naeff MS, et al. Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. Heart 1998;80:163- 9.
46. Roman MJ, Rosen SE, Kramer-Fox R, et al. Prognostic significance of the pattern of aortic root dilatation in the Marfan syndrome. J Am Coll Cardiol 1993;22:1470-6.
47. Knirsch W, Kurtz C, Haffner N, et al. Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study. Am J Med Genet A 2006;140:775-81.
48. Oosterhof T, Groenink M, Hulsmans FJ, et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 2001;220:514-18.
49. Maron BJ, Ackerman MJ, Nishimura RA, et al. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol 2005;45:1340-5.
50. Corrado D, Basso C, Rizzoli G, et al. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 2003;42:1959-63.
51. Hirth A, Reybrouck T, Bjarnason-Wehrens B, et al. Recommendations for participation in competitive and leisure sports in patients with congenital heart disease: a consensus document. Eur J Cardiovasc Prev Rehabil 2006;13:293-9.
52. Fletcher GF, Balady G, Blair SN, et al. Statement on exercise: benefits and recommendations for physical activity programs for all Americans. A statement for health professionals by the Committee on Exercise and Cardiac Rehabilitation of the Council on Clinical Cardiology, American Heart Association. Circulation 1996;94:857-62.
53. Moriguchi J, Itoh H, Harada S, et al. Low frequency regular exercise improves flow-mediated dilatation of subjects with mild hypertension. Hypertens Res 2005;28:315-21.
54. Mason NJ, Jenkins AJ, Best JD, et al. Exercise frequency and arterial compliance in non-diabetic and type 1 diabetic individuals. Eur J Cardiovasc Prev Rehabil 2006;13:598-603.
55. Raitakari OT, Ronnemaa T, Jarvisalo MJ, et al. Endothelial function in healthy 11-year-old children after dietary intervention with onset in infancy: the Special Turku Coronary Risk Factor Intervention Project for children (STRIP). Circulation 2005;112:3786-94.
56. Cuevas AM, Germain AM. Diet and endothelial function. Biol Res 2004;37:225-30.
57. Adams JN, Brooks M, Redpath TW, et al. Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome. Br Heart J 1995;73:265-9.
58. Groenink M, Lohuis TA, Tijssen JG, et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart 1999;82:499-504.
59. Nollen GJ, Groenink M, Tijssen JG, et al. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 2004;25:1146-52.
60. Shores J, Berger KR, Murphy EA, et al. Progression of aortic dilatation and the benefit of long-term B-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994;330:1335-41.
61. Rossi-Foulkes R, Roman MJ, Rosen SE, et al. Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 1999;83:1364-8.
62. 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.
63. Salim MA, Alpert BS, Ward JC, et al. Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Cardiol 1994;74:629-33.
64. Haouzi A, Berglund H, Pelikan PCD, et al. Heterogeneous aortic response to acute B-adrenergic blockade in Marfan syndrome. Am J Cardiol 1997;133:60-3.
65. Lacourciere Y, Beliveau R, Conter HS, et al. Effects of perindopril on elastic and structural properties of large arteries in essential hypertension. Can J Cardiol 2004;20:795-9.
66. Nagashima H, Uto K, Sakomura Y, et al. An angiotensin-converting enzyme inhibitor, not an angiotensin II type-1 receptor blocker, prevents beta-aminopropionitrile monofumarate-induced aortic dissection in rats. J Vasc Surg 2002;36:818-23.
67. 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.
68. Tsang VT, Pawade A, Karl TR, et al. Surgical management of Marfan syndrome in children. J Card Surg 1994;9:50-4.
69. Bentall H, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 1968;23:338-9.
70. Birks EJ, Webb C, Child A, et al. Early and long-term results of a valve-sparing operation for Marfan syndrome. Circulation 1999;100(Suppl):II29-35.
71. 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 2006;82:548-53.
72. 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.
73. Vricella LA, Williams JA, Ravekes WJ, et al. Early experience with valve-sparing aortic root replacement in children. Ann Thorac Surg 2005;80:1622-6.
74. Golesworthy T, Lamperth M, Mohiaddin R, et al. The Tailor of Gloucester: a jacket for the Marfan's aorta. Lancet 2004;364:1582.
75. Shaddy RE, Hawkins JA. Immunology and failure of valved allografts in children. Ann Thorac Surg 2002;74:1271-5.
76. Stark J. The use of valved conduits in pediatric cardiac surgery. Pediatr Cardiol 1998;19:282-8.
77. Treasure T. Cardiovascular surgery for Marfan syndrome. Heart 2000;84:674-8.
78. 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.
79. Fast JH, Boers GH, Meijers-Jacobs S, et al. Cardiovascular abnormalities in Marfan syndrome. Ned Tijdschr Geneeskd, 1992;136:1259-63.