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The Pulmonary Artery in Pediatric Patients with Marfan Syndrome: An Underestimated Aspect of the Disease

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Abstract

Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and pulmonary root, MPA dilatation may cause complications and require treatment. In addition, it may be a predictor for severe connective tissue involvement. We retrospectively examined 135 pediatric patients with MFS. 8.1% showed MPA dilatation. MPA dilatation was associated with earlier occurrence of aortic dilatation, mitral valve prolapse, and systemic manifestations of MFS compared with patients without MPA dilatation (p < 0.05). The presence of MPA dilatation was also associated with a higher incidence of ectopia lentis (p < 0.05). Medical treatment was started earlier in MPA dilatation patients than in those without (p < 0.05). We conclude that MPA dilatation is a sign of more severe vascular and connective tissue involvement. Regular examination of the pulmonary artery is essential in MFS to avoid complications. As medical treatment of life threatening MFS events has improved, other features of MFS need to be investigated to improve quality of life.

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References

  1. Ammash NM, Sundt TM, Connolly HM (2008) Marfan syndrome: diagnosis and management. Curr Probl Cardiol 33:7–39

    Article  PubMed  Google Scholar 

  2. Dean JC (2007) Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 15:724–733

    Article  PubMed  CAS  Google Scholar 

  3. Loeys BL, Dietz HC, Bravermann AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485

    Article  PubMed  CAS  Google Scholar 

  4. Lundby RL, Rand-Hendriksen S, Hald JK et al (2012) The pulmonary artery in patients with Marfan syndrome: a cross-sectional study. Genet Med 14(11):922–927

    Article  PubMed  Google Scholar 

  5. Sheikhzadeh S, De Backer J, Gorgan NR et al (2014) The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome. Orphanet J Rare Dis 9:203

    Article  PubMed  PubMed Central  Google Scholar 

  6. Pati PK, George PV, Jose JV (2013) Giant pulmonary artery aneurysm with dissection in a case of Marfan syndrome. J Am Coll Cardiol 61(6):685. https://doi.org/10.1016/j.jacc.2012.07.077

    Article  PubMed  Google Scholar 

  7. Nollen GJ, Schijndel KE, Timmermans J et al (2002) Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Heart 87:470–471

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  8. Zilberman MV, Khoury PR, Kimball RT (2005) Two-dimensional echocardiographic valve measurements in healthy children: gender-specific differences. Pediatr Cardiol 26:356–360

    Article  PubMed  CAS  Google Scholar 

  9. Pettersen MD, Du W, Skeens ME, Humes RA (2008) Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study. J Am Soc Echocardiogr 21:922–934

    Article  PubMed  Google Scholar 

  10. Mueller GC, Stark V, Steiner K et al (2013) Impact of age and gender on cardiac patholoy in children and adolescents with Marfan syndrome. Pediatr Cardiol 34:991. https://doi.org/10.1007/s00246-012-0593-0

    Article  PubMed  Google Scholar 

  11. Disler LJ, Manga P, Barlow JB (1988) Pulmonary arterial aneurysms in Marfan’s syndrome. Int J Cardiol 21:79–82

    Article  PubMed  CAS  Google Scholar 

  12. Hokken RB, Bartelings MM, Bogers AJJC et al (1997) Morphology of the pulmonary and aortic roots with regard to the pulmonary autograft procedure. J Thorac Cardiovasc Surg 113:453–461

    Article  PubMed  CAS  Google Scholar 

  13. Niwa K, Perloff JK, Bhuta SM et al (2001) Structural abnormalities of great arterial walls in congenital heart disease. Circulation 103:393–400

    Article  PubMed  CAS  Google Scholar 

  14. DeBacker J, Loey B, Devos D et al (2006) A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med 8:401–408

    Article  Google Scholar 

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

    Article  PubMed  Google Scholar 

  16. Roman MJ, Devereux RB, Kramer-Fox R, O’Loughlin J (1989) Two-Dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 64(8):507–512

    Article  PubMed  CAS  Google Scholar 

  17. Lorenz CH (2000) The range of normal values of cardiovascular structures in infants, children, and adolescents measured by magnetic resonance imaging. Pediatr Cardiol 21:37–46

    Article  PubMed  CAS  Google Scholar 

  18. Kampmann C, Wiethoff CM, Wenzel A et al (2000) Normal values of M-mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 83:667–672

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  19. Kreiblich M, Siepe M, Kroll J et al (2015) Aneurysms of the pulmonary artery. Circulation 131:310–316

    Article  Google Scholar 

  20. Inayama Y, Nakatani Y, Kitamura H (2001) Pulmonary artery dissection in patients without underlying pulmonary hypertension. Histopathology 38:435–442

    Article  PubMed  CAS  Google Scholar 

  21. Tuncer A, Tuncer EY, Tas SG et al (2011) Repair of pulmonary artery aneurysms. J Card Surg 26:501–505

    Article  PubMed  Google Scholar 

  22. Force SD, Lau CL, Moazami N et al (2003) Bilateral lung transplantation and pulmonary artery reconstruction in a patient with chronic obstructive pulmonary disease and a giant pulmonary artery aneurysm. J Thorac Cardiovasc Surg 126:864–866

    Article  PubMed  Google Scholar 

  23. Joyce F, Tingleff J, Pettersen G (1995) Expanding indications for the Ross operation. J Heart Valve Dis 4:352–363

    PubMed  CAS  Google Scholar 

  24. Habashi JP, Judge DP, Holm TM et al (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312:117–121

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  25. Kim KL, Yang JH, Song S-H et al (2013) Positive correlation between the dysregulation of transforming growth factor β1 and aneurysmal pathological changes in patients with Marfan syndrome. Circ J 77:952–958

    Article  PubMed  CAS  Google Scholar 

  26. Silverman DI, Burton KJ, Gray J et al (1995) Life expectancy in the Marfan syndrome. Am J Cardiol 75:157–160

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

We thank Hanne Gadeberg, PhD, from the Edanz group (http://www.edanzediting.com/ac) for editing a draft of this manuscript.

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Author notes

  1. Veronika C. Stark and Michael Huemmer have contributed equally to this work.

Authors and Affiliations

  1. Pediatric Cardiology, University Heart Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany

    Veronika C. Stark, Michael Huemmer, Jakob Olfe, Goetz C. Mueller, Rainer Kozlik-Feldmann & Thomas S. Mir

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  1. Veronika C. Stark
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  2. Michael Huemmer
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  3. Jakob Olfe
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  4. Goetz C. Mueller
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Correspondence to Veronika C. Stark.

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The authors declare that they have no conflicts of interest.

Ethical Approval

All procedures performed were in accordance with the ethical standards of the Hamburg Ethical Board (Project identification code: PV 4005) and with the 1964 Helsinki declaration and its later amendments.

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We obtained informed consent of the patient, parent, or legal guardian. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.

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Stark, V.C., Huemmer, M., Olfe, J. et al. The Pulmonary Artery in Pediatric Patients with Marfan Syndrome: An Underestimated Aspect of the Disease. Pediatr Cardiol 39, 1194–1199 (2018). https://doi.org/10.1007/s00246-018-1880-1

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  • DOI: https://doi.org/10.1007/s00246-018-1880-1

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