{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T12:55:43Z","timestamp":1769086543205,"version":"3.49.0"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T00:00:00Z","timestamp":1766188800000},"content-version":"vor","delay-in-days":1716,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["JTC 2016 IKDT-IGCM"],"award-info":[{"award-number":["JTC 2016 IKDT-IGCM"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37-year-old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilated cardiomyopathy with ventricular tachyarrhythmias and recurrent syncope. At magnetic resonance cardiomyopathy was characterized by left ventricular dilatation with hypo-contractility and mitral prolapse with valve regurgitation. At left ventricular endomyocardial biopsy, it was documented cardiomyocyte disconnection because of cytoskeletal disorganization of cell-to-cell contacts, including intercalated discs, and mitochondrial damage and dysfunction with significant reduction of adenosine triphosphate production in patient cultured fibroblasts. At an extensive analysis by next-generation-sequencing of 4183 genes potentially related to the cardiomyopathy a pathogenic mutation of calreticulin was found. The cardiomyopathy appeared to be functionally and electrically stabilized by a combination therapy including carvedilol and amiodarone at a follow-up of 18 months.<\/jats:p>","DOI":"10.1002\/ehf2.13260","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T07:18:11Z","timestamp":1617952691000},"page":"2310-2315","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel Dilated Cardiomyopathy Associated to\n                    <i>Calreticulin<\/i>\n                    and\n                    <i>Myo7A<\/i>\n                    Gene Mutation in Usher Syndrome"],"prefix":"10.1093","volume":"8","author":[{"given":"Andrea","family":"Frustaci","sequence":"first","affiliation":[{"name":"Department of Clinical, Internal, Anesthesiologist and Cardiovascular Sciences, Sapienza University , Viale del Policlinico 155, Rome, 00161 ,","place":["Italy"]},{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Fondazione IRCSS Casa Sollievo della Sofferenza , San Giovanni Rotondo ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Galea","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Verardo","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Fondazione IRCSS Casa Sollievo della Sofferenza , San Giovanni Rotondo ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalba","family":"Carrozzo","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Ges\u00f9 Pediatric Hospital , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Chimenti","sequence":"additional","affiliation":[{"name":"Department of Clinical, Internal, Anesthesiologist and Cardiovascular Sciences, Sapienza University , Viale del Policlinico 155, Rome, 00161 ,","place":["Italy"]},{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Frustaci","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Sansone","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cellular Pathology, IRCCS San Raffaele Pisana , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo Antonio","family":"Russo","sequence":"additional","affiliation":[{"name":"MEBIC Consortium, San Raffaele Open University and IRCCS San Raffaele Pisana , Rome ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,4,9]]},"reference":[{"key":"2026012114241229000_ehf213260-bib-0001","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0021-9681(83)90147-9","article-title":"Usher syndrome: definition and estimate of prevalence from two high-risk populations","volume":"36","author":"Boughman","year":"1983","journal-title":"J Chronic Dis"},{"key":"2026012114241229000_ehf213260-bib-0002","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1146\/annurev-biochem-011520-105234","article-title":"The myosin family of mechanoenzymes: from mechanisms to therapeutic approaches","volume":"89","author":"Trivedi","year":"2020","journal-title":"Annu Rev Biochem"},{"key":"2026012114241229000_ehf213260-bib-0003","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.jacc.2017.12.019","article-title":"Genetics, clinical features and long term outcome of noncompaction cardiomyopathy","volume":"71","author":"Van Waning","year":"2018","journal-title":"Am Coll Cardiol"},{"key":"2026012114241229000_ehf213260-bib-0004","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.bbrc.2009.03.121","article-title":"Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders","volume":"383","author":"Rizza","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"2026012114241229000_ehf213260-bib-0005","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1002\/humu.23593","article-title":"Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect","volume":"39","author":"Ferese","year":"2018","journal-title":"Hum Mutat"},{"key":"2026012114241229000_ehf213260-bib-0006","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0070636","article-title":"Distinct functional interactions between actin isoforms and non-sarcomeric myosins","volume":"8","author":"Muller","year":"2013","journal-title":"PLoS One"},{"key":"2026012114241229000_ehf213260-bib-0007","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.bbrc.2014.04.156","article-title":"Novel distribution of calreticulin to cardiomyocyte mitochondria and its increase in a rat model of dilated cardiomyopathy","volume":"449","author":"Zhang","year":"2014","journal-title":"BiochemBiophys Res Commun"},{"key":"2026012114241229000_ehf213260-bib-0008","article-title":"Calreticulin-STAT3 signaling pathway modulates mitochondrial function in a rat model of furazolidone-induced dilated cardiomyopathy","volume":"8","author":"Zhang","year":"2013","journal-title":"PLoS One"},{"key":"2026012114241229000_ehf213260-bib-0009","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.200204092","article-title":"Calreticulin reveals a critical Ca2+ checkpoint in cardiac myofibrillogenesis","volume":"158","author":"Li","year":"2002","journal-title":"J Cell Biol"},{"key":"2026012114241229000_ehf213260-bib-0010","article-title":"Calreticulin induces dilated cardiomyopathy","volume":"8","author":"Lee","year":"2013","journal-title":"PLoS One"},{"key":"2026012114241229000_ehf213260-bib-0011","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1016\/j.jacc.2016.08.054","article-title":"Left ventricular noncompaction: anatomical phenotype or distinct cardiomyopathy?","volume":"68","author":"Weir-McCall","year":"2016","journal-title":"J Am Coll Cardiol"}],"container-title":["ESC Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ehf2.13260","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ehf2.13260","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/8\/3\/2310\/65798069\/eschf_8_3_2310.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/8\/3\/2310\/65798069\/eschf_8_3_2310.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T19:30:13Z","timestamp":1769023813000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eschf\/article\/8\/3\/2310\/8363449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,9]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,4,9]]},"published-print":{"date-parts":[[2021,6,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ehf2.13260","relation":{},"ISSN":["2055-5822"],"issn-type":[{"value":"2055-5822","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,6]]},"published":{"date-parts":[[2021,4,9]]},"assertion":[{"value":"2020-12-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}