{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T16:06:09Z","timestamp":1772813169997,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T00:00:00Z","timestamp":1664323200000},"content-version":"unspecified","delay-in-days":27,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["19K08315"],"award-info":[{"award-number":["19K08315"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,9,8]]},"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>Noonan syndrome (NS) is a congenital disease with characteristic facial features as well as heart disease, short stature and thoracic abnormalities. More than eighty per cent of patients with NS show several cardiac disorders including pulmonary valvular stenosis, hypertrophic cardiomyopathy (HCM) and\/or atrial septal defects. HCM is a serious cardiac comorbidity in patients with NS, especially in those who are diagnosed within 6 months of age with congestive heart failure. Arrhythmia with or without HCM in NS is a rare comorbidity with a complicated clinical course and poor prognosis.<\/jats:p>\n               <jats:p>In this manuscript, we present the case of a male infant with NS with <jats:italic>RAF1<\/jats:italic> gene mutation, who showed various types of arrhythmias. He developed life-threatening heart failure and uncontrollable arrhythmias. We attempted several antiarrhythmic agents and finally controlled the arrhythmias to establish a normal sinus rhythm with a combination of amiodarone and flecainide.<\/jats:p>","DOI":"10.1136\/bcr-2022-250342","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T11:25:18Z","timestamp":1664364318000},"page":"e250342","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Male infant with Noonan syndrome with <i>RAF-1<\/i> gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias"],"prefix":"10.1136","volume":"15","author":[{"given":"Mao","family":"Hagino","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Tohoku University Hospital, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-1144","authenticated-orcid":false,"given":"Chiharu","family":"Ota","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Tohoku University Hospital, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takehiko","family":"Onoki","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Tohoku University Hospital, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinya","family":"Iwasawa","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Tohoku University Hospital, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,9,28]]},"reference":[{"key":"2025082801223745000_15.9.e250342.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-4"},{"key":"2025082801223745000_15.9.e250342.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70088-0"},{"key":"2025082801223745000_15.9.e250342.3","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1002\/ajmg.a.38854","article-title":"Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients","volume":"176","author":"Levin","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082801223745000_15.9.e250342.4","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.114"},{"key":"2025082801223745000_15.9.e250342.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21187"},{"key":"2025082801223745000_15.9.e250342.6","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1002\/ajmg.a.32206","article-title":"Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome","volume":"146A","author":"Limongelli","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2025082801223745000_15.9.e250342.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2011.03.001"},{"key":"2025082801223745000_15.9.e250342.8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI44929"},{"key":"2025082801223745000_15.9.e250342.9","doi-asserted-by":"crossref","DOI":"10.4022\/jafib.1556","article-title":"Atrial fibrillation in hypertrophic cardiomyopathy: diagnosis and considerations for management","volume":"10","author":"Patten","year":"2018","journal-title":"J Atr Fibrillation"},{"key":"2025082801223745000_15.9.e250342.10","first-page":"1337","article-title":"Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-arrhythmia working group joint consensus statement","volume":"15","author":"Brugada","year":"2013","journal-title":"EP Eur"},{"key":"2025082801223745000_15.9.e250342.11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1745-7254.2005.00049.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250342","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:22:43Z","timestamp":1756369363000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,9,28]]},"published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1136\/bcr-2022-250342"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250342","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9]]}}}