{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:37:30Z","timestamp":1787017050627,"version":"build-2736575974"},"reference-count":30,"publisher":"BMJ","issue":"21","funder":[{"name":"Fondazione CRT Trieste, Centre for Translational Cardiology (CTC) Project funding"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Heart"],"accepted":{"date-parts":[[2017,3,16]]},"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To explore the genetic landscape of a well selected dilated cardiomyopathy (DCM) cohort, assessing the possible relation between different genotypes and left ventricular reverse remodelling (LVRR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A cohort of 152 patients with DCM from the Heart Muscle Disease Registry of Trieste has been studied by next-generation sequencing (NGS). Patients were grouped into different \u2018gene-clusters\u2019 with functionally homogeneous genetic backgrounds. LVRR was defined by left ventricular ejection fraction normalisation or increase \u226510% associated with normalisation in indexed left ventricular end-diastolic diameter or relative decrease \u226510% at 24 months follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A pathogenic disease-related gene variant was identified in 57% of patients: 28 (18%)\n                      <jats:italic>TTN<\/jats:italic>\n                      ; 7 (5%)\n                      <jats:italic>LMNA<\/jats:italic>\n                      ; 16 (11%) structural cytoskeleton Z-disk genes; 9 (6%) desmosomal genes; 18 (12%) motor sarcomeric genes and 9 (6%) other genes. Baseline clinical features were similar throughout the different genotypes. A significant relationship was found between gene cluster subgroups and LVRR, with a lower rate of LVRR in structural cytoskeleton Z-disk gene mutation carriers (1\/16 patients, 6%, p&lt;0.05\u2009\n                      <jats:italic>vs<\/jats:italic>\n                      the other subgroups). Of note, structural cytoskeleton Z-disk gene rare variants were independently and inversely associated with LVRR when adjusted for clinical predictors of LVRR (OR 0.065; 95% CI 0.008 to 0.535, p=0.011).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>NGS confirmed a high genetic diagnostic yield in DCM. A specific \u2018gene-clusters\u2019 classification based on functional similarities in different genes might be helpful in the clinical management of genetically determined DCM. In this study, structural cytoskeleton Z-disk gene rare variants were independently associated with a lower rate of LVRR at follow-up.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/heartjnl-2016-311017","type":"journal-article","created":{"date-parts":[[2017,4,17]],"date-time":"2017-04-17T20:35:19Z","timestamp":1492461319000},"page":"1704-1710","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":89,"title":["Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy"],"prefix":"10.1136","volume":"103","author":[{"given":"Matteo","family":"Dal Ferro","sequence":"first","affiliation":[{"name":"Cardiovascular Department, Azienda Sanitaria-Universitaria Integrata of Trieste \u201cASUITS\u201d, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Stolfo","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, Azienda 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