{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:59:31Z","timestamp":1787237971720,"version":"build-2736575974"},"reference-count":47,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,3,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results:<\/jats:title>\n                    <jats:p>\n                      We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS). Using generalized estimating equation (GEE) models, we estimated the yearly rate of decrease of EF (\u20130.80%) and SF (\u20130.41%), while EDV increase was not significantly associated with age. Utilizing a multivariate generalized estimating equation (GEE) model we observed that mutations preserving the expression of the C-terminal Dp71 isoform of dystrophin were correlated with decreased EDV (\u201311.01\u200amL\/m\n                      <jats:sup>2<\/jats:sup>\n                      , p\u200a=\u200a0.03) while for dp116 were correlated with decreased EF (\u20134.14%, p\u200a=\u200a&lt;0.001). The rs10880 genotype in the LTBP4 gene, previously shown to prolong ambulation, was also associated with increased EF and decreased EDV (+3.29%, p\u200a=\u200a0.002, and \u201310.62\u200amL\/m\n                      <jats:sup>2<\/jats:sup>\n                      , p\u200a=\u200a0.008) with a recessive model.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We quantitatively describe the progression of systolic dysfunction progression in DMD, confirm the effect of distal dystrophin isoform expression on the dystrophin-deficient heart, and identify a strong effect of LTBP4 genotype of DCM in DMD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230129","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T10:45:23Z","timestamp":1708080323000},"page":"285-297","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["The IAAM\n                    <i>LTBP4<\/i>\n                    Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy"],"prefix":"10.1177","volume":"11","author":[{"given":"Luca","family":"Bello","sequence":"first","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Sabbatini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Fusto","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Gorgoglione","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni Umberto","family":"Borin","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Penzo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Riguzzi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Villa","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Vianello","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Calore","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Cardiology Section, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Melacini","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Cardiology Section, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Vio","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Cardiology Section, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Barp","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"D\u2019Angelo","sequence":"additional","affiliation":[{"name":"IRCCS Eugenio Medea, Bosisio Parini, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Gandossini","sequence":"additional","affiliation":[{"name":"IRCCS Eugenio Medea, Bosisio Parini, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Cardiomiology and Medical Genetics, \u201cVanvitelli\u201d University of Campania, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Berardinelli","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, \u201cC. Mondino\u201d Foundation, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Nemo Sud Clinical Center, University of Messina, Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Luca","family":"Vita","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Nemo Sud Clinical Center, University of Messina, Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Pedemonte","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Albamonte","sequence":"additional","affiliation":[{"name":"Centro Clinico NeMo, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Sansone","sequence":"additional","affiliation":[{"name":"Centro Clinico NeMo, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Myopathology Units, Neurological Institute \u201cCarlo Besta\u201d, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Masson","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Myopathology Units, Neurological Institute \u201cCarlo Besta\u201d, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS \u201cStella Maris\u201d, Calambrone, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00fa Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00fa Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Universit\u00e1 Cattolica del Sacro Cuore, and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Lucibello","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Universit\u00e1 Cattolica del Sacro Cuore, and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Universit\u00e1 Cattolica del Sacro Cuore, and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Spurney","sequence":"additional","affiliation":[{"name":"Division of Cardiology and the Center for Genetic Medicine Research at Children\u2019s National Medical Center (CNMC), Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Clemens","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pittsburgh School of Medicine, and Neurology Service, Department of Veterans Affairs Medical Center, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Morgenroth","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Children\u2019s Research Institute, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Gordish-Dressman","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Children\u2019s Research Institute, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig M.","family":"McDonald","sequence":"additional","affiliation":[{"name":"University of California Davis Medical Center, Sacramento, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Children\u2019s Research Institute, Children\u2019s National Health System, Washington, DC, USA"},{"name":"Binghamton University - SUNY, Binghamton, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CINRG-DNHS Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences DNS, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00140-2"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2448"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(90)90082-G"},{"key":"ref005","unstructured":"MelaciniPCardiac problems in DMD. In: Muscular Dystrophy: Causes and Management. Nova Science Publishers, Inc.; 2013. pp. 367-380."},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22097"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"ref008","unstructured":"BirnkrantDJ, BelloL, ButterfieldRJ, CarterJC, CripeLH, CripeTP, MckimDA, NandiD, PegoraroECardiorespiratory management of Duchenne muscular dystrophy: Emerging therapies, neuromuscular genetics, and new clinical challenges [Internet]. Available from: www.thelancet.com\/"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.03.002"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(02)03429-X"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2014.04.038"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24163"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.867242"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.104.528281"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.001782"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.002051"},{"key":"ref017","first-page":"122","volume":"35","author":"Bello L","year":"2016","journal-title":"Acta Myol"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002891"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23561"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140002"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-022-11133-8"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0141240"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318207afeb"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23819"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.023"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23807"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1016\/S0894-7317(89)80014-8"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0218683"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-12981-5"},{"key":"ref030","unstructured":"BelloL, D\u2019AngeloG, VillaM, FustoA, VianelloS, MerloB, SabbatiniD, BarpA, GandossiniS, MagriF, ComiGP, PedemonteM, TacchettiP, LanzillottaV, TruccoF, D\u2019AmicoA, BertiniE, AstreaG, PolitanoL, MassonR, BaranelloG, AlbamonteE, De MattiaE, RaoF, SansoneVA, PrevitaliS, MessinaS, VitaGL, BerardinelliA, MonginiT, PiniA, PaneM, MercuriE, VianelloA, BrunoC, HoffmanEP, MorgenrothL, Gordish-DressmanH, McDonaldCM, InvestigatorsC-D, PegoraroEGenetic modifiers of respiratory function in Duchenne muscular dystrophy. Ann Clin Transl Neurol. 2020;n\/a."},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"ref032","doi-asserted-by":"publisher","DOI":"10.1007\/s11897-010-0028-2"},{"key":"ref033","doi-asserted-by":"publisher","DOI":"10.1136\/openhrt-2018-000783"},{"key":"ref034","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.060"},{"key":"ref035","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn131"},{"key":"ref036","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0034204"},{"key":"ref037","doi-asserted-by":"publisher","DOI":"10.26508\/lsa.201800186"},{"key":"ref038","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001950"},{"key":"ref039","doi-asserted-by":"publisher","DOI":"10.1186\/s13063-018-2645-0"},{"key":"ref040","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.4315"},{"key":"ref041","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.36"},{"key":"ref042","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaa4804"},{"key":"ref043","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24370"},{"key":"ref044","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2010.10.033"},{"key":"ref045","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2007.05.014"},{"key":"ref046","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.114.015151"},{"key":"ref047","unstructured":"TandonA, VillaCR, HorKN, JefferiesJL, GaoZ, TowbinJA, WongBL, MazurW, FleckRJ, StickaJJ, BensonDW, TaylorMD. Myocardial fibrosis burden predicts left ventricular ejection fraction and is associated with age and steroid treatment duration in duchenne muscular dystrophy. J Am Heart Assoc [Internet]. 2015 [cited 2023 Aug 21];4. Available from: https:\/\/www.ahajournals.org\/doi\/abs\/10.1161\/JAHA.114.001338"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-230129","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-230129","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-230129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:37Z","timestamp":1777506757000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-230129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,16]]},"references-count":47,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3,5]]}},"alternative-id":["10.3233\/JND-230129"],"URL":"https:\/\/doi.org\/10.3233\/jnd-230129","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,16]]}}}