Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지
DOI QR코드

DOI QR Code

Infantile Marfan syndrome in a Korean tertiary referral center

  • Seo, Yeon Jeong (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Lee, Ko-Eun (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kim, Gi Beom (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kwon, Bo Sang (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Bae, Eun Jung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Noh, Chung Il (Department of Pediatrics, Seoul National University Children's Hospital)
  • 투고 : 2015.09.17
  • 심사 : 2015.10.23
  • 발행 : 2016.02.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Purpose: Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. Methods: Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. Results: Their median age at the time of diagnosis was 2.5 months (range, 0-20 months). The median follow-up period was 25.5 months (range, 0-94 months). The median length at birth was 50.0 cm (range, 48-53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5-69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. Conclusion: The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.

키워드

참고문헌

  1. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005;366:1965-76. https://doi.org/10.1016/S0140-6736(05)67789-6
  2. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9. https://doi.org/10.1038/352337a0
  3. Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, et al. Diagnosis and management of infantile marfan syndrome. Pediatrics 1990;86:888-95.
  4. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85. https://doi.org/10.1136/jmg.2009.072785
  5. Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005;139:1.
  6. 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;65:1230-7. https://doi.org/10.1016/0002-9149(90)90979-B
  7. 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. https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R
  8. van Kimmenade RR, Kempers M, de Boer MJ, Loeys BL, Timmermans J. A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome. Genet Med 2013;15:528-32. https://doi.org/10.1038/gim.2012.172
  9. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol 2010;7:256-65. https://doi.org/10.1038/nrcardio.2010.30
  10. Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, et al. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation 2008;118:785-91. https://doi.org/10.1161/CIRCULATIONAHA.108.783753
  11. Marfan AB. Uncas de déformationcongénitale des quatremembres, plus prononcée aux extrémités, caractériséeparl'allongement des os avec un certaindegréd'amincissement. Bull Mem Soc Med Hop(Paris) 1896;13:220-6.
  12. Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 1988;29:581-94. https://doi.org/10.1002/ajmg.1320290316
  13. Das R, Majumder B, Bera D, Chakraborty S. Neonatal Marfan syndrome: a rare presentation. Niger J Cardiol 2015;12:57-9. https://doi.org/10.4103/0189-7969.148491
  14. Pyeritz RE, Wappel MA. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med 1983;74:797-807. https://doi.org/10.1016/0002-9343(83)91070-7
  15. Shih HY, Liu WS, Chen TJ. Neonatal Marfan syndrome: a case report. Acte Cardiol Sin 2004;20:171-5.
  16. Phornphutkul C, Rosenthal A, Nadas AS. Cardiac manifestations of Marfan syndrome in infancy and childhood. Circulation 1973;47:587-96. https://doi.org/10.1161/01.CIR.47.3.587
  17. Ramaswamy P, Lytrivi ID, Nguyen K, Gelb BD. Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. Pediatr Cardiol 2006;27:763-5. https://doi.org/10.1007/s00246-006-1378-0
  18. Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome. Am J Med Genet 2002;109:100-15. https://doi.org/10.1002/ajmg.10312
  19. Day DL, Burke BA. Pulmonary emphysema in a neonate with Marfan syndrome. Pediatr Radiol 1986;16:518-21. https://doi.org/10.1007/BF02387973
  20. Shinawi M, Boileau C, Brik R, Mandel H, Bentur L. Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. Pediatr Pulmonol 2005;39:374-8. https://doi.org/10.1002/ppul.20174
  21. Canadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 2: treatment and management of patients. Nat Rev Cardiol 2010;7:266-76. https://doi.org/10.1038/nrcardio.2010.31
  22. Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation 2008;117:2802-13. https://doi.org/10.1161/CIRCULATIONAHA.107.693523
  23. Buchhorn R, Kertess-Szlaninka T, Dippacher S, Hulpke-Wette M. Neonatal Marfan syndrome: improving the bad prognosis with a strict conservative treatment with carvedilol? Open J Thorac Surg 2014;4:44-7. https://doi.org/10.4236/ojts.2014.42010
  24. Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med 2014;371:2061-71. https://doi.org/10.1056/NEJMoa1404731
  25. Kim ER, Kim WH, Choi ES, Cho S, Jang WS, Kim YJ. Surgical management of mitral regurgitation in patients with Marfan syndrome during infancy and early childhood. Korean J Thorac Cardiovasc Surg 2015;48:7-12. https://doi.org/10.5090/kjtcs.2015.48.1.7
  26. Miyahara Y, Kasahara S, Takagaki M, Sano S. Successful aortic reimplantation in a three-year-old child with Marfan syndrome. Interact Cardiovasc Thorac Surg 2010;11:218-20. https://doi.org/10.1510/icvts.2010.234138
  27. Strigl S, Quagebeur JM, Gersony WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol 2007;28:403-5. https://doi.org/10.1007/s00246-006-0066-4
  28. Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis 2007;2:342-6. https://doi.org/10.1111/j.1747-0803.2007.00123.x

피인용 문헌

  1. A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome vol.109, pp.9, 2016, https://doi.org/10.1111/apa.15186
  2. Marfan syndrome vol.7, pp.1, 2021, https://doi.org/10.1038/s41572-021-00298-7