Health supervision for children with marfan syndrome

Pediatrics

Volumn 132, Issue 4, 2013, Pages

  Tinkle, Brad T ^a   Saal, Howard M ^a   Saul, Robert A ^a   Braddock, Stephen R ^a   Chen, Emily ^a   Freedenberg, Debra L ^a   Jones, Marilyn C ^a   Perrin, James M ^a   Tarini, Beth Anne ^a   Copeland, Sara ^b   Dipple, Katrina M ^c   Allen Hogge, W ^a   Parisi, Melissa A ^d   Shapira, Stuart K ^e   Spire, Paul ^a  

^a Committee on Genetics ^*

^b HEALTH RESOURCES AND SERVICES ADMINISTRATION   (United States)

^c American College of Medical Genetics   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^e CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

Author keywords

Marfan syndrome

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; ESTROGEN; PROGESTERONE;

AORTA DISEASE; AORTA DISSECTION; ARACHNODACTYLY; ARTICLE; BODY POSTURE; BONE DENSITY; BONE GROWTH; CARDIOVASCULAR SYSTEM; CHILD CARE; CHILD DEVELOPMENT; CHILD GROWTH; CLINICAL SUPERVISION; COGNITION; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; DRUG MEGADOSE; DRUG TOLERABILITY; DURAL ECTASIA; ECHOCARDIOGRAPHY; ECTOPIA LENTIS; FATIGUE; FBN1 GENE; FUNNEL CHEST; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INSPIRATORY RESERVE VOLUME; JOINT STABILITY; KYPHOSCOLIOSIS; MAGNETIC RESONANCE ANGIOGRAPHY; MARFAN SYNDROME; MORBIDITY; MORTALITY; MUSCLE MASS; MYOPIA; ORTHOSTATIC INTOLERANCE; PATIENT EDUCATION; PHENOTYPE; PHYSICAL ACTIVITY; PIGEON THORAX; PNEUMOTHORAX; PREGNANCY; PRIORITY JOURNAL; PSYCHOSOCIAL DISORDER; REFRACTIVE SURGERY; RISK ASSESSMENT; SLEEP DISORDER; SLEEP DISORDERED BREATHING; STRIA; SYMPTOMATOLOGY; TGFBR1 GENE; TGFBR2 GENE; TOOTH MALFORMATION;

MARFAN SYNDROME;

CHILD; DISEASE MANAGEMENT; HUMANS; MARFAN SYNDROME; PRACTICE GUIDELINES AS TOPIC;

EID: 84885105642     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-2063     Document Type: Article

References (75)

1. 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. 2005;139C(1):4-9
2. Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007;15(7):724-733
3. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476-485
4. Attanasio M, Lapini I, Evangelisti L, et al. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clin Genet. 2008;74(1):39-46
5. Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat. 2004;24(2):140-146
6. Rybczynski M, Bernhardt AM, Rehder U, et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A. 2008;146A(24):3157-3166
7. Faivre L, Masurel-Paulet A, Collod-Béroud G, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009;123(1):391-398
8. Summers KM, West JA, Peterson MM, Stark D, McGill JJ, West MJ. Challenges in the diagnosis of Marfan syndrome. Med J Aust. 2006;184(12):627-631
9. Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome. Am J Med Genet. 2002; 109(2):100-115
10. Lee JM, Howell JD. Tall girls: the social shaping of a medical therapy. Arch Pediatr Adolesc Med. 2006;160(10):1035-1039
11. Rand-Hendriksen S, Sørensen I, Holmström H, Andersson S, Finset A. Fatigue, cognitive functioning and psychological distress in Marfan syndrome, a pilot study. Psychol Health Med. 2007;12(3):305-313
12. van Dijk N, Boer MC, Mulder BJ, van Montfrans GA, Wieling W. Is fatigue in Marfan syndrome related to orthostatic intolerance? Clin Auton Res. 2008;18(4): 187-193
13. Scherer LR, Arn PH, Dressel DA, Pyeritz RM, Haller JA Jr. Surgical management of children and young adults with Marfan syndrome and pectus excavatum. J Pediatr Surg. 1988;23(12):1169-1172
14. Lawson ML, Mellins RB, Paulson JF, et al. Increasing severity of pectus excavatum is associated with reduced pulmonary function. J Pediatr. 2011;159(2):256.e2-261.e2
15. Lesbo M, Tang M, Nielsen HH, et al. Compromised cardiac function in exercising teenagers with pectus excavatum. Interact Cardiovasc Thorac Surg. 2011;13(4):377-380
16. Sponseller PD, Hobbs W, Riley LH, III, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am. 1995;77 (6):867-876
17. Glard Y, Launay F, Edgard-Rosa G, Collignon P, Jouve JL, Bollini G. Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop. 2008;2(3):211-216
18. Di Silvestre M, Greggi T, Giacomini S, Cioni A, Bakaloudis G, Lolli F, Parisini P. Surgical treatment for scoliosis in Marfan syndrome. Spine (Phila Pa 1976). 2005;30(20): E597-E604
19. Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg. 2009;17(9): 572-581
20. Lundby R, Kirkhus E, Rand-Hendriksen S, Hald J, Pripp AH, Smith HJ. CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study. Eur Radiol. 2011;21(7):1485-1491
21. Dunlop CC, Jones CW, Maffulli N. Protrusio acetabuli. Bull Hosp Jt Dis. 2005;62(3-4): 105-114
22. Sponseller PD, Jones KB, Ahn NU, Erkula G, Foran JR, Dietz HC III. Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. J Bone Joint Surg Am. 2006;88(3):486-495
23. Bird HA. Joint hypermobility. Musculoskelet Care. 2007;5(1):4-19
24. Dietz HC. Marfan syndrome. In: Pagon RA, Adam MP, Bird TD, et al, eds. GeneReviews. Seattle, WA: University of Washington; 1993-2013. Available at: www.ncbi.nlm.nih.gov/books/NBK1335/. Accessed August 18, 2013
25. Ting BL, Mathur D, Loeys BL, Dietz HC, III, Sponseller PD. The diagnostic value of the facial features of Marfan syndrome. J Child Orthop. 2010;4(6):545-551
26. Giampietro PF, Peterson M, Schneider R, et al. Assessment of bone mineral density in adults and children with Marfan syndrome. Osteoporos Int. 2003;14(7):559-563
27. Moura B, Tubach F, Sulpice M, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine. 2006;73(6):733-735
28. Giampietro PF, Peterson MG, Schneider R, et al. Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome-some factors which affect the measurement. HSS J. 2007;3(1):89-92
29. Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006;51(6):561-575
30. Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79: 684-733
31. Kang HK, Luff AJ. Management of retinal detachment: a guide for non-ophthalmologists. BMJ. 2008;336(7655):1235-1240
32. Hollands H, Johnson D, Brox AC, Almeida D, Simel DL, Sharma S. Acute-onset floaters and flashes: is this patient at risk for retinal detachment? JAMA. 2009;302(20):2243-2249
33. Morrison D, Sternberg P, Donahue S. Anterior chamber intraocular lens (ACIOL) placement after pars plana lensectomy in pediatric Marfan syndrome. J AAPOS. 2005; 9(3):240-242
34. Stuart AG, Williams A. Marfan's syndrome and the heart. Arch Dis Child. 2007;92(4): 351-356
35. Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol. 1983;52(3):353-358
36. Meijboom LJ, Timmermans J, Zwinderman AH, Engelfriet PM, Mulder BJ. Aortic root growth in men and women with the Marfan's syndrome. Am J Cardiol. 2005;96 (10):1441-1444
37. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 2: treatment and management of patients. Nat Rev Cardiol. 2010;7(5):266-276
38. 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 (8):507-512
39. Sharkey AM. Cardiovascular management of Marfan syndrome in the young. Curr Treat Options Cardiovasc Med. 2006;8(5): 396-402
40. 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(9):1364-1368
41. Kroner BL, Tolunay HE, Basson CT, et al. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. Am Heart J. 2009;162(4):627. e1-632.e1
42. 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(5770):117-121
43. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008;358(26):2787-2795
44. Gott VL, Cameron DE, Alejo DE, et al. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg. 2002;73(2):438-443
45. 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(2): S769-S773, discussion S785-S790
46. 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. 2009;87(5):1344-1349, discussion 1349-1350
47. Gillinov AM, Zehr KJ, Redmond JM, et al. Cardiac operations in children with Marfan's syndrome: indications and results. Ann Thorac Surg. 1997;64(4):1140-1144, discussion 1144-1145
48. Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation. 1995; 91(3):728-733
49. Yetman AT, Roosevelt GE, Veit N, Everitt MD. Distal aortic and peripheral arterial aneurysms in patients with Marfan syndrome. J Am Coll Cardiol. 2011;58(24): 2544-2545
50. Pelliccia A, Zipes DP, Maron BJ. Bethesda Conference #36 and the European Society of Cardiology Consensus Recommendations revisited a comparison of U.S. and European criteria for eligibility and disqualification of competitive athletes with cardiovascular abnormalities. J Am Coll Cardiol. 2008;52(24):1990-1996
51. Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995;75(2):157-160
52. Gray JR, Bridges AB, West RR, et al. Life expectancy in British Marfan syndrome populations. Clin Genet. 1998;54(2):124-128
53. Wood JR, Bellamy D, Child AH, Citron KM. Pulmonary disease in patients with Marfan syndrome. Thorax. 1984;39(10):780-784
54. Giske L, Stanghelle JK, Rand-Hendrikssen S, Strøm V, Wilhelmsen JE, Røe C. Pulmonary function, working capacity and strength in young adults with Marfan syndrome. J Rehabil Med. 2003;35(5):221-228
55. Kohler M, Blair E, Risby P, et al. The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome. Thorax. 2009;64(2):162-166
56. Cistulli PA, Gotsopoulos H, Sullivan CE. Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome. Chest. 2001;120(5): 1455-1460
57. Cohen PR, Schneiderman P. Clinical manifestations of the Marfan syndrome. Int J Dermatol. 1989;28(5):291-299
58. Rand-Hendriksen S, Lundby R, Tjeldhorn L, et al. Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. Eur J Hum Genet. 2009;17(10):1222-1230
59. Foran JR, Pyeritz RE, Dietz HC, Sponseller PD. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A. 2005;134A(1): 58-65
60. Nallamshetty L, Ahn NU, Ahn UM, et al. Dural ectasia and back pain: review of the literature and case report. J Spinal Disord Tech. 2002;15(4):326-329
61. Milledge JT, Ades LC, Cooper MG, Jaumees A, Onikul E. Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. J Paediatr Child Health. 2005;41(1-2):68-71
62. Rosser T, Finkel J, Vezina G, Majd M. Postural headache in a child with Marfan syndrome: case report and review of the literature. J Child Neurol. 2005;20(2):153-155
63. Maron BJ, Chaitman BR, Ackerman MJ, et al; Working Groups of the American Heart Association Committee on Exercise, Cardiac Rehabilitation, and Prevention; Councils on Clinical Cardiology and Cardiovascular Disease in the Young. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004;109(22):2807-2816
64. De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RC. Marfan syndrome in Europe. Community Genet. 2004;7(4):216-225
65. Fusar-Poli P, Klersy C, Stramesi F, Callegari A, Arbustini E, Politi P. Determinants of quality of life in Marfan syndrome. Psychosomatics. 2008;49(3):243-248
66. Raanani E, Ghosh P. The multidisciplinary approach to the Marfan patient. Isr Med Assoc J. 2008;10(3):171-174
67. Goland S, Barakat M, Khatri N, Elkayam U. Pregnancy in Marfan syndrome: maternal and fetal risk and recommendations for patient assessment and management. Cardiol Rev. 2009;17(6):253-262
68. Meijboom LJ, Vos FE, Timmermans J, Boers GH, Zwinderman AH, Mulder BJ. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 2005;26(9):914-920
69. Anum EA, Hill LD, Pandya A, Strauss JF III. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta. 2009;30 (3):207-215
70. Meijboom LJ, Drenthen W, Pieper PG, et al; ZAHARA investigators. Obstetric complications in Marfan syndrome. Int J Cardiol. 2006;110(1):53-59
71. Tekin M, Cengiz FB, Ayberkin E, et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A. 2007;143A(8):875-880
72. Volach V, Elami A, Gilon D, Pollak A, Ginosar Y, Ezra Y. Pregnancy in Marfan syndrome after aortic root replacement: a case report and review of the literature. Congenit Heart Dis. 2006;1(4):184-188
73. Burke LW, Pyeritz RE. Prenatal diagnosis of connective tissue disorders. In: Milunsky A, ed. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 4th ed. Baltimore, MD: Johns Hopkins University Press; 1998:612-634
74. Sutherell J, Zarate Y, Tinkle BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis. 2007;2(5):342-346
75. Geva T, Sanders SP, Diogenes MS, Rockenmacher S, Van Praagh R. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol. 1990;65(18):1230-1237