Skip to main content
SpringerLink
Log in

Neonatal Marfan Syndrome

In Utero Presentation with Aortic and Pulmonary Artery Dilatation and Successful Repair of an Acute Flail Mitral Valve Leaflet in Infancy

  • CASE REPORT
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

Neonatal Marfan syndrome (nMFS) is the rare and severe form of this connective tissue disorder with poor outcome due to progressive valvular insufficiency. We describe a case of nMFS suspected in utero, by fetal echocardiography, due to marked dilatation of both great arteries, which is the first description of fetal pulmonary artery dilatation in this disorder. The patient developed a flail mitral valve leaflet during the first year of life that was successfully repaired with an excellent medium-term result. This is the first report of this type of surgery in infancy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Boxer RA, Singh S, Goldman M, LaCorte MA (1986) Flail posterior mitral leaflet: an unusual cause of mitral regurgitation in childhood. Am Heart J 111:604–606

    Article  PubMed  CAS  Google Scholar 

  2. De Paepe A, Devereux RB, Dietz HC (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426

    Article  PubMed  Google Scholar 

  3. Devereux RB, Roman MJ (1999) Aortic disease in Marfan’s syndrome. N Engl J Med 340:1358–1359

    Article  PubMed  CAS  Google Scholar 

  4. Fuzellier J-FG, Chauvaud SM, Fornes P, et al. (1998) Surgical management of mitral regurgitation associated with Marfan’s syndrome. Ann Thorac Suug 66:68–72

    Article  CAS  Google Scholar 

  5. Geva T, Sanders SP, Diogenes MS, Rockenmacher S, Van Praagh R (1990) Two-dimensional and Doppler echocardiographic and pathologic characteristics of infantile Marfan syndrome. Am J Cardiol 65:1230–1237

    Article  PubMed  CAS  Google Scholar 

  6. Gillinov AM, Hulyalkar A, Cameron DE, et al. (1994) Mitral valve operation in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 107:724–731

    PubMed  CAS  Google Scholar 

  7. Gross DM, Robinson LK, Smith LT, et al. (1989) Severe perinatal Marfan syndrome. Pediatrics 84:83–89

    PubMed  CAS  Google Scholar 

  8. Lopes LM, Cha SC, De Moraes EA, Zugaib M (1995) Echocardiographic diagnosis of fetal Marfan syndrome at 34 weeks gestation. Prenat Diagn 15:183–185

    PubMed  CAS  Google Scholar 

  9. Morse RP, Rockenmacher S, Pyeritz RE, et al. (1990) Diagnosis and management of infantile Marfan syndrome. Pediatrics 86:888–895

    PubMed  CAS  Google Scholar 

  10. Ng DK, Chau KW, Black C, et al. (1999) Neonatal Marfan syndrome: a case report. J Paediatr Child Health 35:321–323

    Article  PubMed  CAS  Google Scholar 

  11. Tiecke F, Katzke S, Booms P, et al. (2001) Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–genotype correlations in FBN1 exons 24–40. Eur J Genet 9:13–21

    Article  CAS  Google Scholar 

  12. Weidenbach M, Brenner R, Rantamaki T, Redel DA (1999) Acute mitral regurgiation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. Paediatr Cardiol 20:382–385

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Cardiology, Maimonides Medical Center, 4802, 10th Avenue, Brooklyn, NY, 11219, USA

    Prema Ramaswamy & Irena D. Lytrivi

  2. Department of Cardiothoracic Surgery, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY, 10029, USA

    Khanh Nguyen

  3. Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY, USA

    Bruce D. Gelb

Authors
  1. Prema Ramaswamy
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Irena D. Lytrivi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Khanh Nguyen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bruce D. Gelb
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Prema Ramaswamy.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ramaswamy, P., Lytrivi, I.D., Nguyen, K. et al. Neonatal Marfan Syndrome. Pediatr Cardiol 27, 763–765 (2006). https://doi.org/10.1007/s00246-006-1378-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-006-1378-0

Keywords

Search

Navigation