{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T18:40:25Z","timestamp":1783795225337,"version":"3.55.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>The aim of the present study is to report the diagnosis and treatment of a rare case of frequent torsades de pointes (Tdp) in a child with a novel <jats:italic>AKAP9<\/jats:italic> mutation. A 13-year-old girl suffered from repeated syncope and frequent Tdp. An electrocardiogram (ECG) showed frequent multisource premature ventricular contractions with the R-ON-T phenomenon. The QTc ranged from 410 to 468\u2005ms. The genetic test indicated a heterozygous mutation, namely, c.11714T\u2009&amp;gt;\u2009C (p.M3905T), in the <jats:italic>AKAP9<\/jats:italic> gene, which is a controversial gene in long QT syndrome. After treatment with propranolol, recurrent syncope occurred, and the patient received an implantable cardioverter defibrillator (ICD). Due to frequent electrical storms at home, the child was additionally treated with propafenone to prevent arrhythmia. The antitachycardia pacing (ATP) function in the ICD was turned off, and the threshold of ventricular tachycardia (VT) assessment was adjusted from 180 beats\/min to 200 beats\/min. The patient was followed up for 12 months without malignant arrhythmia and electric shock.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic testing may be a useful tool to determine the origin of channelopathy, but the results should be interpreted in combination with the actual situation. Rational parameter settings for the ICD and application of antiarrhythmic drugs can reduce the mortality rates of children.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.1027177","type":"journal-article","created":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T15:04:12Z","timestamp":1673363052000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Frequent torsades de pointes in a child with novel AKAP9 mutation: A case report and literature review"],"prefix":"10.3389","volume":"10","author":[{"given":"Yefeng","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunbin","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiming","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1017\/S1047951120001602","article-title":"Immunosuppressant associated torsades de pointes after acute heart rejection in an 8-year-old boy","volume":"30","author":"Hsin-Ming","year":"2020","journal-title":"Cardiol Young"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2827","DOI":"10.1253\/circj.cj-14-0905","article-title":"Genetic and clinical advances in congenital long QT syndrome","volume":"78","author":"Mizusawa","year":"2014","journal-title":"Circ J"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1888","DOI":"10.1016\/j.hrthm.2021.07.038","article-title":"PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients","volume":"18","author":"Writing Committee","year":"2021","journal-title":"Heart Rhythm"},{"key":"B4","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.jacc.2013.04.044","article-title":"Impact of genetics on the clinical management of channelopathies","volume":"62","author":"Schwartz","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1161\/circulationaha.119.04313","article-title":"An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome","volume":"141","author":"Adler","year":"2020","journal-title":"Circulation"},{"key":"B6","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1161\/circgenetics.113.000580","article-title":"AKAP9 is a genetic modifier of congenital long-QT syndrome type 1","volume":"7","author":"de Villiers","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/s10840-019-00606-y","article-title":"Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes","volume":"56","author":"Bottigliero","year":"2019","journal-title":"J Interv Card Electrophysiol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1097\/fjc.0b013e318232c80c","article-title":"A-kinase anchoring protein 9 and IKs channel regulation","volume":"58","author":"Chen","year":"2011","journal-title":"J Cardiovasc Pharmacol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"e220","DOI":"10.1016\/j.hrthm.2019.02.034","article-title":"HRS\/EHRA\/APHRS\/LAHRS focused update to 2015 expert consensus statement on optimal implantable cardioverter-defibrillator programming and testing","volume":"17","author":"Stiles","year":"2019","journal-title":"Heart Rhythm"},{"key":"B10","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1177\/2048872618791308","article-title":"Management of out-of-hospital cardiac arrest and electric storm","volume":"7","author":"Vrints","year":"2018","journal-title":"Eur Heart J Acute Cardiovasc Care"},{"key":"B11","doi-asserted-by":"publisher","first-page":"617","DOI":"10.2165\/00003495-198734060-00001","article-title":"Propafenone. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in the treatment of arrhythmias","volume":"34","author":"Harron","year":"1987","journal-title":"Drugs"},{"key":"B12","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1097\/pec.0000000000001346","article-title":"Ventricular tachycardia induced by propafenone intoxication in a pediatric patient","volume":"35","author":"Rosa","year":"2019","journal-title":"Pediatr Emerg Care"},{"key":"B13","doi-asserted-by":"publisher","first-page":"905","DOI":"10.3760\/cma.j.cn112140-20200408-00361","article-title":"Efficacy and safety of implantable cardioverter-defibrillator implantation in pediatric tachycardia cases","volume":"58","author":"Chen","year":"2020","journal-title":"Zhonghua\u00a0Er Ke Za Zhi"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1027177\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T15:04:15Z","timestamp":1673363055000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1027177\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,9]]},"references-count":13,"alternative-id":["10.3389\/fped.2022.1027177"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.1027177","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,9]]},"article-number":"1027177"}}