Advertisement

Mitral valve replacement and trans-mitral myectomy for a child with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy

  • Takashi SasakiEmail author
  • Toshihide Asou
  • Makoto Shirakawa
  • Ken-ichiro Takahashi
  • Shinobu Kunugi
  • Takashi Nitta
Case Report
  • 8 Downloads

Abstract

A 4-year-old boy with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy presented with refractory heart failure owing to severe left ventricular outflow obstruction and mitral regurgitation. He underwent mitral valve replacement and trans-mitral myectomy. The pathology of the resected myocardium was consistent with hypertrophic cardiomyopathy, and the mitral valve leaflets were severely degenerated. Compared with a control patient who is a non-syndromic 4-year-old boy with hypertrophic obstructive cardiomyopathy, mitral pathology was much more severe in Noonan syndrome. Regarding trans-mitral myectomy, residual pressure gradient at the mid-ventricular level made us think about more aggressive muscle resection with various approaches.

Keywords

Noonan syndrome Hypertrophic obstructive cardiomyopathy Pediatric Myectomy Mitral valve replacement Pathology 

Notes

Acknowledgements

We would like to thank Dr. Shunichi Ogawa, Dr. Ryuji Fukazawa, and Dr. Makoto Watanabe for pre and postoperative management and follow-up, Dr. Yuki Izumi for review of the echocardiography findings. We would like to thank Editage (http://www.editage.jp) for English language editing.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2012;164:442–8.CrossRefGoogle Scholar
  2. 2.
    Hickey EJ, McCrindle BW, Larsen SH, Benson L, Manlhiot C, Caldarone CA, et al. Hypertrophic cardiomyopathy in childhood: disease natural history, impact of obstruction, and its influence on survival. Ann Thorac Surg. 2012;93:840–8.CrossRefGoogle Scholar
  3. 3.
    Ineke van der Burgt. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4.CrossRefGoogle Scholar
  4. 4.
    Sherrid MV, Balaram S, Kim B, Axel L, Swistel DG. The mitral valve in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. 2016;67:1846–58.CrossRefGoogle Scholar
  5. 5.
    Bogachev-Prokophev A, Afanasyev A, Zheleznev S, Fomenko M, Sharifulin R, Kretov E, et al. Mitral valve repair or replacement in hypertrophic obstructive cardiomyopathy: a prospective randomized study. Interact Cardiovasc Thorac Surg. 2017;25:356–62.CrossRefGoogle Scholar
  6. 6.
    Klues HG, Maron BJ, Dollar AL, Roberts WC. Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy. Circulation. 1992;85:1651–60.CrossRefGoogle Scholar
  7. 7.
    Delmo Walter EM, Siniawski H, Hetzer R. Sustained improvement after combined anterior mitral valve leaflet retention plasty and septal myectomy in preventing systolic anterior motion in hypertrophic obstructive cardiomyopathy in children. Eur J Cardiothorac Surg. 2009;36:546–52.CrossRefGoogle Scholar
  8. 8.
    Altarabsheh SE, Dearani JA, Burkhart HM, Schaff HV, Deo SV, Eidem BW, et al. Outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in children and young adults. Ann Thorac Surg. 2013;95:663–9.CrossRefGoogle Scholar
  9. 9.
    Matsuda H, Nomura F, Kadoba K, Taniguchi K, Imagawa H, Kagisaki K, et al. Transatrial and transmitral approach for left ventricular myectomy and mitral valve plication for diffuse-type hypertrophic obstructive cardiomyopathy: a novel approach. J Thorac Cardiovasc Surg. 1996;112(1):195–6.CrossRefGoogle Scholar
  10. 10.
    Laredo M, Khraiche D, Raisky O, Gaudin R, Bajolle F, Maltret A, et al. Long-term results of modified Konno procedure in high-risk children with obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg. 2018;156:2285–94.CrossRefGoogle Scholar
  11. 11.
    Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schanzer A, et al. Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines. Palliative treatment with a Rapamycin analog. Am J Med Genet A. 2015;0(4):744–51.CrossRefGoogle Scholar
  12. 12.
    Poterucha JT, Hojnson JN, O’Leary PW, Connolly HM, Niaz T, Maleszewski JJ, et al. Surgical ventricular septal myectomy for patients with Noonan syndrome and symptomatic left ventricular outflow tract obstruction. Am J Cardiol. 2015;116:1116–21.CrossRefGoogle Scholar
  13. 13.
    Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, et al. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016;135:209–22.CrossRefGoogle Scholar

Copyright information

© The Japanese Association for Thoracic Surgery 2019

Authors and Affiliations

  1. 1.Department of Cardiovascular SurgeryNippon Medical School HospitalTokyoJapan
  2. 2.Department of Cardiovascular SurgeryKanagawa Children’s HospitalYokohamaJapan
  3. 3.Department of PathologyNippon Medical School HospitalTokyoJapan

Personalised recommendations