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

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 migh...

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Veröffentlicht in:	Cardiology in the young 2019-02, Vol.29 (2), p.228-230
Hauptverfasser:	Takai, Shiori, Takasawa, Kei, Doi, Shozaburo
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneurysm Brief Report Child, Preschool Coronary Aneurysm - diagnosis Coronary Aneurysm - etiology Coronary Aneurysm - genetics Coronary Angiography Coronary artery Coronary Vessels - diagnostic imaging DNA Mutational Analysis Fragility Humans Kinases Male Mucocutaneous lymph node syndrome Mucocutaneous Lymph Node Syndrome - complications Mutation Noonan Syndrome - complications Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan's syndrome Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics Tumor necrosis factor-TNF Veins & arteries
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Zusammenfassung:	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.
ISSN:	1047-9511 1467-1107
DOI:	10.1017/S1047951118001877