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Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation

Part of: Basic Science

Published online by Cambridge University Press:  04 December 2018

Shiori Takai ,
Kei Takasawa Open the ORCID record for Kei Takasawa [Opens in a new window]  and
Shozaburo Doi
Shiori Takai
Affiliation:
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan
Kei Takasawa*
Affiliation:
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan
Shozaburo Doi
Affiliation:
Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan
*
Author for correspondence: K. Takasawa, MD PhD, Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo 113-8510, Japan. Tel: +81-3-5803-5249, Fax: +81-3-5803-5246; E-mail: [email protected]
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Abstract

We report a 3-year-old boy with giant and atypical coronary artery aneurysms in the acute phase of Kawasaki disease, despite appropriate therapeutic intervention, in Noonan syndrome with a novel heterozygous PTPN11 mutation, c. 907 G>A (p.Asp303Asn). We hypothesised that this PTPN11 mutation might affect both hyperinflammation caused by Kawasaki disease and vascular fragility in the coronary artery, resulting in coronary artery aneurysms.

Keywords

Noonan syndromePTPN11coronary artery aneurysmsKawasaki disease
Type
Brief Report
Information
Cardiology in the Young , Volume 29 , Issue 2 , February 2019 , pp. 228 - 230
Copyright
© Cambridge University Press 2018 

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Footnotes

Cite this article: Takai S, Takasawa K, Doi S. (2018) Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. Cardiology in the Young page 228 of 230. doi: 10.1017/S1047951118001877

References

1. Romano, AA, Allanson, JE, Dahlgren, J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746–759.Google Scholar
2. Calcagni, G, Limongelli, G, D’Ambrosio, A, et al. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Int J Cardiol 2017; 245: 92–98.Google Scholar
3. Tartaglia, M, Gelb, BD, Zenker, M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25: 161–179.10.1016/j.beem.2010.09.002Google Scholar
4. Kobayashi, T, Inoue, Y, Takeuchi, K, et al. Prediction of intravenous immunoglobulin unresponsiveness in patients with Kawasaki disease. Circulation 2006; 113: 2606–2612.Google Scholar
5. Dimitriades, VR, Brown, AG, Gedalia, A. Kawasaki disease: pathophysiology, clinical manifestations, and management. Curr Rheumatol Rep 2014; 16: 423.10.1007/s11926-014-0423-xGoogle Scholar
6. Breunis, WB, Davila, S, Shimizu, C, et al. Disruption of vascular homeostasis in patients with Kawasaki disease: involvement of vascular endothelial growth factor and angiopoietins. Arthritis Rheum 2012; 64: 306–315.Google Scholar
7. Bode, JG, Schweigart, J, Kehrmann, J, et al. TNF-alpha induces tyrosine phosphorylation and recruitment of the Src homology protein-tyrosine phosphatase 2 to the gp130 signal-transducing subunit of the IL-6 receptor complex. J Immunol 2003; 171:257–266.Google Scholar
8. Taimeh, Z, Loughran, J, Birks, EJ, Bolli, R. Vascular endothelial growth factor in heart failure. Nat Rev Cardiol 2013; 10: 519–530.Google Scholar
9. Calcagni, G, Baban, A, De Luca, E, Leonardi, B, Pongiglione, G, Digilio, MC. Coronary artery ectasia in Noonan syndrome: report of an individual with SOS1 mutation and literature review. Am J Med Genet A 2016; 170: 665–669.Google Scholar
10. Mauro, DM, Flors, L, Hoyer, AW, Norton, PT, Hagspiel, KD. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome. Pediatr Radiol 2016; 46: 422–425.10.1007/s00247-015-3472-zGoogle Scholar
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