{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T17:37:33Z","timestamp":1789925853409,"version":"4.0.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100019349","name":"Nanjing Medical Science and Technique Development Foundation","doi-asserted-by":"publisher","award":["YKK19109"],"award-info":[{"award-number":["YKK19109"]}],"id":[{"id":"10.13039\/501100019349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019349","name":"Nanjing Medical Science and Technique Development Foundation","doi-asserted-by":"publisher","award":["ZKX20041"],"award-info":[{"award-number":["ZKX20041"]}],"id":[{"id":"10.13039\/501100019349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019349","name":"Nanjing Medical Science and Technique Development Foundation","doi-asserted-by":"publisher","award":["QRX17024"],"award-info":[{"award-number":["QRX17024"]}],"id":[{"id":"10.13039\/501100019349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017962","name":"Jiangsu Commission of Health","doi-asserted-by":"publisher","award":["ZD2021058"],"award-info":[{"award-number":["ZD2021058"]}],"id":[{"id":"10.13039\/100017962","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016105","name":"Project on Maternal and Child Health Talents of Jiangsu Province","doi-asserted-by":"publisher","award":["F202023"],"award-info":[{"award-number":["F202023"]}],"id":[{"id":"10.13039\/100016105","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease with poor prognosis. Its primary manifestations were caused by systemic or pulmonary circulation congestion. Here, we reported a case of RCM with ventricular fibrillation as initial symptom in a 7-year-old boy. The child suffered cardiac and respiratory arrest suddenly while exercising at school and immediately was given external chest compression and defibrillation by the school\u2019s equipped automatic external defibrillator (AED). The rescue was successful. At the time of the AED discharge, his electrocardiogram (ECG) indicated ventricular fibrillation. Upon further examination, the echocardiogram revealed enlarged bilateral atria, decreased diastolic function and normal ventricular thickness. Genetic analysis identified a heterozygous missense mutation [c.611(exon8)G&amp;gt;A,p.R204H] of <jats:italic>TNNI3<\/jats:italic> in the proband boy. This case contributes to our understanding of RCM in children and emphasizes the importance of having AEDs available in public places.<\/jats:p>","DOI":"10.3389\/fcvm.2022.1058341","type":"journal-article","created":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T05:04:12Z","timestamp":1668143052000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient"],"prefix":"10.3389","volume":"9","author":[{"given":"Lianfu","family":"Ji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinlong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuming","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiwei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"108","DOI":"10.31083\/j.rcm2303108","article-title":"Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.","volume":"23","author":"Chintanaphol","year":"2022","journal-title":"Rev Cardiovasc Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.1042\/cs20160170","article-title":"Molecular mechanisms in cardiomyopathy.","volume":"131","author":"Dadson","year":"2017","journal-title":"Clin Sci."},{"key":"B3","doi-asserted-by":"publisher","first-page":"745365","DOI":"10.3389\/fped.2021.745365","article-title":"Pediatric restrictive cardiomyopathies.","volume":"9","author":"Ditaranto","year":"2021","journal-title":"Front Pediatr."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1161\/circulationaha.112.104638","article-title":"Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the pediatric cardiomyopathy registry.","volume":"126","author":"Webber","year":"2012","journal-title":"Circulation."},{"key":"B5","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1161\/01.cir.102.8.876","article-title":"Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy.","volume":"102","author":"Rivenes","year":"2000","journal-title":"Circulation."},{"key":"B6","doi-asserted-by":"publisher","first-page":"2094","DOI":"10.3390\/jcm11082094","article-title":"Genetic insights into primary restrictive cardiomyopathy.","volume":"11","author":"Brodehl","year":"2022","journal-title":"J Clin Med."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1478","DOI":"10.1136\/hrt.2007.134684","article-title":"Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.","volume":"94","author":"Kaski","year":"2008","journal-title":"Heart."},{"key":"B8","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1002\/humu.22942","article-title":"Mutations in FLNC are associated with familial restrictive cardiomyopathy.","volume":"37","author":"Brodehl","year":"2016","journal-title":"Hum Mutat."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.rec.2022.08.002","article-title":"ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive\/hypertrophic cardiomyopathy and saw-tooth myocardium.","author":"Berm\u00fadez-Jim\u00e9nez","year":"2022","journal-title":"Rev Esp Cardiol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1002\/humu.23248","article-title":"The novel \u03b1B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum Mutat."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.3390\/biomedicines9101400","article-title":"The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3.","volume":"9","author":"Brodehl","year":"2021","journal-title":"Biomedicines."},{"key":"B12","doi-asserted-by":"publisher","first-page":"312","DOI":"10.3389\/fped.2020.00312","article-title":"left bundle pacing for left bundle branch block and intermittent third-degree atrioventricular block in a MYH7 mutation-related hypertrophic cardiomyopathy with restrictive phenotype in a child.","volume":"8","author":"Zhang","year":"2020","journal-title":"Front Pediatr."},{"key":"B13","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/j.echo.2016.01.011","article-title":"Recommendations for the evaluation of left ventricular diastolic function by echocardiography: an update from the American society of echocardiography and the European association of cardiovascular imaging.","volume":"29","author":"Nagueh","year":"2016","journal-title":"J Am Soc Echocardiogr."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1007\/s11547-020-01287-8","article-title":"Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies.","volume":"125","author":"Galea","year":"2020","journal-title":"Radiol Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"e017731","DOI":"10.1161\/jaha.120.017731","article-title":"Genetic causes of cardiomyopathy in children: first results from the pediatric cardiomyopathy genes study.","volume":"10","author":"Ware","year":"2021","journal-title":"J Am Heart Assoc."},{"key":"B16","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1172\/jci16336","article-title":"Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.","volume":"111","author":"Mogensen","year":"2003","journal-title":"J Clin Invest."},{"key":"B17","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1111\/j.1399-0004.2007.00939.x","article-title":"Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.","volume":"73","author":"Ware","year":"2008","journal-title":"Clin Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.ijcard.2013.11.037","article-title":"Titin mutation in familial restrictive cardiomyopathy.","volume":"171","author":"Peled","year":"2014","journal-title":"Int J Cardiol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"e015111","DOI":"10.1161\/jaha.119.015111","article-title":"Variant R94C in TNNT2-encoded troponin T predisposes to pediatric restrictive cardiomyopathy and sudden death through impaired thin filament relaxation resulting in myocardial diastolic dysfunction.","volume":"9","author":"Ezekian","year":"2020","journal-title":"J Am Heart Assoc."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1016\/j.jacc.2018.01.016","article-title":"Spectrum of restrictive and infiltrative cardiomyopathies: part 1 of a 2-part series.","volume":"71","author":"Pereira","year":"2018","journal-title":"J Am Coll Cardiol."}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2022.1058341\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T05:04:18Z","timestamp":1668143058000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2022.1058341\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,11]]},"references-count":20,"alternative-id":["10.3389\/fcvm.2022.1058341"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2022.1058341","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,11]]},"article-number":"1058341"}}