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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: ktakasawa.ped@tmd.ac.jp
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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

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