{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T19:05:00Z","timestamp":1785438300598,"version":"3.56.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"S1","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Herz"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s00059-019-4825-4","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T14:03:17Z","timestamp":1560780197000},"page":"29-36","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Prevalence of TTN mutations in\u00a0patients with\u00a0dilated cardiomyopathy","Pr\u00e4valenz von TTN-Mutationen bei Patienten mit dilatativer Kardiomyopathie"],"prefix":"10.1007","volume":"45","author":[{"given":"H.-J.","family":"Fang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1277-7397","authenticated-orcid":false,"given":"B.-P.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,6,17]]},"reference":[{"issue":"5","key":"4825_CR1","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1161\/01.CIR.93.5.841","volume":"93","author":"P Richardson","year":"1996","unstructured":"Richardson P, McKenna W, Bristow M et al (1996) Report of the 1995 World Health Organization\/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 93(5):841\u2013842","journal-title":"Circulation"},{"issue":"1","key":"4825_CR2","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ppedcard.2007.11.013","volume":"25","author":"SC Menon","year":"2008","unstructured":"Menon SC, Olson TM, Michels VV (2008) Genetics of familial dilated cardiomyopathy. Prog Pediatr Cardiol 25(1):57\u201367. https:\/\/doi.org\/10.1016\/j.ppedcard.2007.11.013","journal-title":"Prog Pediatr Cardiol"},{"issue":"2","key":"4825_CR3","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","volume":"29","author":"P Elliott","year":"2008","unstructured":"Elliott P, Andersson B, Arbustini E et al (2008) Classification of the cardiomyopathies: a\u00a0position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart\u00a0J 29(2):270\u2013276. https:\/\/doi.org\/10.1093\/eurheartj\/ehm342","journal-title":"Eur Heart J"},{"issue":"9716","key":"4825_CR4","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1016\/S0140-6736(09)62023-7","volume":"375","author":"JL Jefferies","year":"2010","unstructured":"Jefferies JL, Towbin JA (2010) Dilated cardiomyopathy. Lancet 375(9716):752\u2013762. https:\/\/doi.org\/10.1016\/S0140-6736(09)62023-7","journal-title":"Lancet"},{"issue":"4","key":"4825_CR5","doi-asserted-by":"publisher","first-page":"517","DOI":"10.2217\/bmm.13.77","volume":"7","author":"P Garcia-Pavia","year":"2013","unstructured":"Garcia-Pavia P, Cobo-Marcos M, Guzzo-Merello G et al (2013) Genetics in dilated cardiomyopathy. Biomark Med 7(4):517\u2013533. https:\/\/doi.org\/10.2217\/bmm.13.77","journal-title":"Biomark Med"},{"issue":"10","key":"4825_CR6","doi-asserted-by":"publisher","first-page":"722","DOI":"10.14348\/molcells.2016.0061","volume":"39","author":"KW Cho","year":"2016","unstructured":"Cho KW, Lee J, Kim Y (2016) Genetic variations leading to familial dilated cardiomyopathy. Mol Cells 39(10):722\u2013727. https:\/\/doi.org\/10.14348\/molcells.2016.0061","journal-title":"Mol Cells"},{"issue":"2","key":"4825_CR7","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.hfc.2017.12.004","volume":"14","author":"AC Garfinkel","year":"2018","unstructured":"Garfinkel AC, Seidman JG, Seidman CE (2018) Genetic pathogenesis of hypertrophic and dilated cardiomyopathy. Heart Fail Clin 14(2):139\u2013146. https:\/\/doi.org\/10.1016\/j.hfc.2017.12.004","journal-title":"Heart Fail Clin"},{"issue":"2","key":"4825_CR8","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/s00392-016-1033-6","volume":"106","author":"E Kayvanpour","year":"2017","unstructured":"Kayvanpour E, Sedaghat-Hamedani F, Amr A et al (2017) Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol 106(2):127\u2013139. https:\/\/doi.org\/10.1007\/s00392-016-1033-6","journal-title":"Clin Res Cardiol"},{"issue":"8","key":"4825_CR9","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1016\/j.amjcard.2011.06.022","volume":"108","author":"M Petretta","year":"2011","unstructured":"Petretta M, Pirozzi F, Sasso L, Paglia A, Bonaduce D (2011) Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am J Cardiol 108(8):1171\u20131176. https:\/\/doi.org\/10.1016\/j.amjcard.2011.06.022","journal-title":"Am J Cardiol"},{"key":"4825_CR10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0145284","author":"O Akinrinade","year":"2015","unstructured":"Akinrinade O, Koskenvuo JW, Alastalo T\u2011P (2015) Prevalence of Titin truncating variants in general population. PLoS ONE. https:\/\/doi.org\/10.1371\/journal.pone.0145284","journal-title":"PLoS ONE"},{"key":"4825_CR11","doi-asserted-by":"publisher","DOI":"10.1097\/hco.0000000000000382","author":"D Fatkin","year":"2017","unstructured":"Fatkin D, Huttner IG (2017) Titin-truncating mutations in dilated cardiomyopathy: the long and short of it. Curr Opin Cardiol. https:\/\/doi.org\/10.1097\/hco.0000000000000382","journal-title":"Curr Opin Cardiol"},{"issue":"7","key":"4825_CR12","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1056\/NEJMoa1110186","volume":"366","author":"DS Herman","year":"2012","unstructured":"Herman DS, Lam L, Taylor MR et al (2012) Truncations of titin causing dilated cardiomyopathy. N\u00a0Engl J Med 366(7):619\u2013628. https:\/\/doi.org\/10.1056\/NEJMoa1110186","journal-title":"N Engl J Med"},{"key":"4825_CR13","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/753675","author":"W Guo","year":"2010","unstructured":"Guo W, Bharmal SJ, Esbona K, Greaser ML (2010) Titin diversity-alternative splicing gone wild. J\u00a0Biomed Biotechnol. https:\/\/doi.org\/10.1155\/2010\/753675","journal-title":"J Biomed Biotechnol"},{"key":"4825_CR14","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.ppedcard.2016.01.003","volume":"40","author":"D Fatkin","year":"2016","unstructured":"Fatkin D, Lam L, Herman DS et al (2016) Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young. Prog Pediatr Cardiol 40:41\u201345. https:\/\/doi.org\/10.1016\/j.ppedcard.2016.01.003","journal-title":"Prog Pediatr Cardiol"},{"issue":"16","key":"4825_CR15","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1016\/j.jacc.2011.01.015","volume":"57","author":"RE Hershberger","year":"2011","unstructured":"Hershberger RE, Siegfried JD (2011) Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J\u00a0Am Coll Cardiol 57(16):1641\u20131649. https:\/\/doi.org\/10.1016\/j.jacc.2011.01.015","journal-title":"J Am Coll Cardiol"},{"issue":"18","key":"4825_CR16","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1093\/eurheartj\/ehu301","volume":"36","author":"J Haas","year":"2015","unstructured":"Haas J, Frese KS, Peil B et al (2015) Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart\u00a0J 36(18):1123\u2013U1143. https:\/\/doi.org\/10.1093\/eurheartj\/ehu301","journal-title":"Eur Heart J"},{"key":"4825_CR17","unstructured":"Alaa Rostom, Catherine Dub\u00e9, Ann Cranney et al. Celiac Disease. Rockville (MD): Agency for Healthcare Research and Quality (US); 2004 Sep. (Evidence Reports\/Technology Assessments, No. 104.) Appendix D. Quality Assessment Forms. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK35149\/."},{"issue":"7109","key":"4825_CR18","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1136\/bmj.315.7109.629","volume":"315","author":"M Egger","year":"1997","unstructured":"Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a\u00a0simple, graphical test. BMJ 315(7109):629\u2013634","journal-title":"BMJ"},{"issue":"4","key":"4825_CR19","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.2307\/2533446","volume":"50","author":"CB Begg","year":"1994","unstructured":"Begg CB, Mazumdar M (1994) Operating characteristics of a\u00a0rank correlation test for publication bias. Biometrics 50(4):1088\u20131101","journal-title":"Biometrics"},{"issue":"1","key":"4825_CR20","doi-asserted-by":"publisher","first-page":"e0169007","DOI":"10.1371\/journal.pone.0169007","volume":"12","author":"M Franaszczyk","year":"2017","unstructured":"Franaszczyk M, Chmielewski P, Truszkowska G et al (2017) Titin truncating variants in dilated cardiomyopathy\u2014prevalence and genotype-phenotype correlations. PLoS ONE 12(1):e169007. https:\/\/doi.org\/10.1371\/journal.pone.0169007","journal-title":"PLoS ONE"},{"issue":"34","key":"4825_CR21","doi-asserted-by":"publisher","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","volume":"36","author":"O Akinrinade","year":"2015","unstructured":"Akinrinade O, Ollila L, Vattulainen S et al (2015) Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart\u00a0J 36(34):2327\u20132337. https:\/\/doi.org\/10.1093\/eurheartj\/ehv253","journal-title":"Eur Heart J"},{"issue":"21","key":"4825_CR22","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1136\/heartjnl-2016-311017","volume":"103","author":"M Dal Ferro","year":"2017","unstructured":"Dal Ferro M, Stolfo D, Altinier A et al (2017) Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. Heart 103(21):1704\u20131710. https:\/\/doi.org\/10.1136\/heartjnl-2016-311017","journal-title":"Heart"},{"issue":"12","key":"4825_CR23","doi-asserted-by":"publisher","first-page":"e0189489","DOI":"10.1371\/journal.pone.0189489","volume":"12","author":"B Klauke","year":"2017","unstructured":"Klauke B, Gaertner-Rommel A, Schulz U et al (2017) High proportion of genetic cases in patients with advanced cardiomyopathy including a\u00a0novel homozygous Plakophilin 2\u2011gene mutation. PLoS ONE 12(12):e189489. https:\/\/doi.org\/10.1371\/journal.pone.0189489","journal-title":"PLoS ONE"},{"issue":"18","key":"4825_CR24","doi-asserted-by":"publisher","first-page":"2264","DOI":"10.1016\/j.jacc.2017.08.063","volume":"70","author":"U Tayal","year":"2017","unstructured":"Tayal U, Newsome S, Buchan R et al (2017) Phenotype and clinical outcomes of Titin cardiomyopathy. J\u00a0Am Coll Cardiol 70(18):2264\u20132274. https:\/\/doi.org\/10.1016\/j.jacc.2017.08.063","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"4825_CR25","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1001\/jamacardio.2016.0208","volume":"1","author":"LE Felkin","year":"2016","unstructured":"Felkin LE, Walsh R, Ware JS et al (2016) Recovery of cardiac function in cardiomyopathy caused by Titin truncation. JAMA Cardiol 1(2):234\u2013235. https:\/\/doi.org\/10.1001\/jamacardio.2016.0208","journal-title":"JAMA Cardiol"},{"issue":"270","key":"4825_CR26","doi-asserted-by":"publisher","first-page":"270ra6","DOI":"10.1126\/scitranslmed.3010134","volume":"7","author":"AM Roberts","year":"2015","unstructured":"Roberts AM, Ware JS, Herman DS et al (2015) Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med 7(270):270ra6. https:\/\/doi.org\/10.1126\/scitranslmed.3010134","journal-title":"Sci Transl Med"},{"issue":"1","key":"4825_CR27","doi-asserted-by":"publisher","first-page":"1998","DOI":"10.1038\/s41598-018-20114-9","volume":"8","author":"T Tobita","year":"2018","unstructured":"Tobita T, Nomura S, Fujita T et al (2018) Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. Sci Rep 8(1):1998. https:\/\/doi.org\/10.1038\/s41598-018-20114-9","journal-title":"Sci Rep"},{"issue":"6","key":"4825_CR28","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1111\/cge.13043","volume":"92","author":"A Janin","year":"2017","unstructured":"Janin A, N\u2019Guyen K, Habib G et al (2017) Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. Clin Genet 92(6):616\u2013623. https:\/\/doi.org\/10.1111\/cge.13043","journal-title":"Clin Genet"},{"issue":"8","key":"4825_CR29","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/gim.2013.204","volume":"16","author":"TJ Pugh","year":"2014","unstructured":"Pugh TJ, Kelly MA, Gowrisankar S et al (2014) The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 16(8):601\u2013608. https:\/\/doi.org\/10.1038\/gim.2013.204","journal-title":"Genet Med"},{"issue":"8","key":"4825_CR30","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1161\/01.CIR.99.8.1022","volume":"99","author":"BL Siu","year":"1999","unstructured":"Siu BL, Niimura H, Osborne JA et al (1999) Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99(8):1022\u20131026","journal-title":"Circulation"},{"issue":"6","key":"4825_CR31","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1007\/s00109-006-0060-6","volume":"84","author":"B Gerull","year":"2006","unstructured":"Gerull B, Atherton J, Geupel A et al (2006) Identification of a\u00a0novel frameshift mutation in the giant muscle filament titin in a\u00a0large Australian family with dilated cardiomyopathy. J\u00a0Mol Med 84(6):478\u2013483. https:\/\/doi.org\/10.1007\/s00109-006-0060-6","journal-title":"J Mol Med"},{"issue":"2","key":"4825_CR32","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/ng815","volume":"30","author":"B Gerull","year":"2002","unstructured":"Gerull B, Gramlich M, Atherton J et al (2002) Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 30(2):201\u2013204. https:\/\/doi.org\/10.1038\/ng815","journal-title":"Nat Genet"},{"issue":"6","key":"4825_CR33","doi-asserted-by":"publisher","first-page":"e1000097","DOI":"10.1371\/journal.pmed1000097","volume":"6","author":"D Moher","year":"2009","unstructured":"Moher D, Liberati A, Tetzlaff J, Altman DG, The PRISMA Group (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Plos Med 6(6):e1000097. https:\/\/doi.org\/10.1371\/journal.pmed1000097","journal-title":"Plos Med"}],"container-title":["Herz"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00059-019-4825-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00059-019-4825-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00059-019-4825-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T11:06:56Z","timestamp":1607339216000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00059-019-4825-4"}},"subtitle":["A\u00a0meta-analysis","Eine Metaanalyse"],"short-title":[],"issued":{"date-parts":[[2019,6,17]]},"references-count":33,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["4825"],"URL":"https:\/\/doi.org\/10.1007\/s00059-019-4825-4","relation":{},"ISSN":["0340-9937","1615-6692"],"issn-type":[{"value":"0340-9937","type":"print"},{"value":"1615-6692","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,17]]},"assertion":[{"value":"14 December 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical guidelines"}},{"value":"H.-J.\u00a0Fang and B.-P.\u00a0Liu declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"For this article no studies with human participants or animals were performed by any of the authors. All studies performed were in accordance with the ethical standards indicated in each case.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}