{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:32:50Z","timestamp":1771061570016,"version":"3.50.1"},"reference-count":13,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2010,6,23]],"date-time":"2010-06-23T00:00:00Z","timestamp":1277251200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:p>Here, we report an infantile case of ventricular septal defect and restrictive cardiomyopathy caused by a <jats:italic>de novo<\/jats:italic> mutation of the cardiac troponin T gene. Initially diagnosed with a perimembranous ventricular septal defect in the newborn period, we observed the first signs of restrictive cardiomyopathy at the age of 18 months. The patient was listed for cardiac transplantation at the age of 8 years despite optimal medical treatment. The finding of a <jats:italic>de novo<\/jats:italic> mutation in <jats:italic>TNNI3<\/jats:italic> (R204H) enabled a genetic diagnosis and counselling. We suggest that the previously reported overlap of functional and morphologic phenotypes in sarcomeric genes may also be a feature of <jats:italic>TNNI3<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1017\/s1047951110000715","type":"journal-article","created":{"date-parts":[[2010,6,23]],"date-time":"2010-06-23T15:02:28Z","timestamp":1277305348000},"page":"574-576","source":"Crossref","is-referenced-by-count":18,"title":["Ventricular septal defect and restrictive cardiomyopathy in a paediatric <i>TNNI3<\/i> mutation carrier"],"prefix":"10.1017","volume":"20","author":[{"given":"Shi Wei","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc-Phillip","family":"Hitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregor","family":"Andelfinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2010,6,23]]},"reference":[{"key":"S1047951110000715_manual_ref-11","doi-asserted-by":"crossref","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":"S1047951110000715_manual_ref-13","doi-asserted-by":"publisher","DOI":"10.1053\/euhj.1998.1083"},{"key":"S1047951110000715_manual_ref-1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021737"},{"key":"S1047951110000715_manual_ref-8","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1172\/JCI200316336","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":"S1047951110000715_manual_ref-12","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.yjmcc.2009.10.031","article-title":"Mutations in Troponin that cause HCM, DCM AND RCM: What can we learn about thin filament function?","volume":"48","author":"Willott","year":"2010","journal-title":"J Mol Cell Cardiol"},{"key":"S1047951110000715_manual_ref-7","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1093\/eurheartj\/ehm239","article-title":"Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects","volume":"28","author":"Monserrat","year":"2007","journal-title":"Eur Heart J"},{"key":"S1047951110000715_manual_ref-3","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2004.043869"},{"key":"S1047951110000715_manual_ref-9","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1161\/CIRCRESAHA.109.196055","article-title":"Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy","volume":"105","author":"Carballo","year":"2009","journal-title":"Circ Res"},{"key":"S1047951110000715_manual_ref-5","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1136\/hrt.2008.154203","article-title":"Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray","volume":"94","author":"Gambarin","year":"2008","journal-title":"Heart"},{"key":"S1047951110000715_manual_ref-4","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2007.134684"},{"key":"S1047951110000715_manual_ref-6","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2004.12.006"},{"key":"S1047951110000715_manual_ref-2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.8.876"},{"key":"S1047951110000715_manual_ref-10","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2301"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951110000715","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T06:48:01Z","timestamp":1750488481000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951110000715\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,23]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S1047951110000715"],"URL":"https:\/\/doi.org\/10.1017\/s1047951110000715","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,23]]}}}