{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:13:24Z","timestamp":1792761204409,"version":"4.5.0"},"reference-count":29,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"unspecified","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Open Heart"],"accepted":{"date-parts":[[2024,10,1]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating <jats:italic>MYBPC3<\/jats:italic> variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>A cohort of patients and relatives with HCM diagnosis and carrying a truncating <jats:italic>MYBPC3<\/jats:italic> variant were retrospectively recruited. Subjects had an average follow-up of 7.77 years, with an incident HCM phenotype of 10%. They were middle-aged adult patients (47\u00b116.8 years) without significant comorbidities or symptoms. Hypertrophy was discrete with a significative difference between probands and relatives (17.5\u00b14\u2009mm vs 14.6\u00b15\u2009mm; p&lt;0.0001). Ejection fraction was predominantly preserved (65%\u00b110%). Despite it being the most common clinical event, relevant heart failure (observed in 8.1% of patients) was infrequent and commonly found in the presence of a second environmental precipitating agent. ESC-HCM risk calculator and modifier factors did not correlate with the risk of major events predicting events, which were low (1.51 per 100\u2009patients\/year) and associated with the severity of HCM, abnormal QRS in the ECG and age. Genetic factors and sex were not associated with major events.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is the first molecularly homogeneous, contemporary cohort, including HCM patients secondary to <jats:italic>MYBPC3<\/jats:italic> truncating variants. Patients showed a good prognosis with a low event rate. In our cohort, major arrhythmic events were not related to measured environmental or genetic factors.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/openhrt-2024-002891","type":"journal-article","created":{"date-parts":[[2024,11,24]],"date-time":"2024-11-24T13:05:40Z","timestamp":1732453540000},"page":"e002891","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort"],"prefix":"10.1136","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8555-2562","authenticated-orcid":false,"given":"Maria","family":"Melendo-Viu","sequence":"first","affiliation":[{"name":"Cardiology, Hospital \u00c1lvaro Cunqueiro, Vigo, Spain"},{"name":"Faculty of Medicine, Complutense University, Madrid, Spain"},{"name":"Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Salguero-Bodes","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Complutense University, Madrid, Spain"},{"name":"Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4371-3620","authenticated-orcid":false,"given":"Mar\u00eda","family":"Valverde-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Mar\u00eda","family":"Larra\u00f1aga-Moreira","sequence":"additional","affiliation":[{"name":"Complexo Hospitalario Universitario A Coru\u00f1a, A Coruna, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Barriales","sequence":"additional","affiliation":[{"name":"Cardiology, Complexo Hospitalario Universitario A Coru\u00f1a, A Coruna, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"D\u00edez-Lopez","sequence":"additional","affiliation":[{"name":"Bellvitge University Hospital, L'Hospitalet de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Limeres Freire","sequence":"additional","affiliation":[{"name":"Vall d'Hebron University Hospital, Barcelona, Spain"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Pe\u00f1a-Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Cardiology, Virgen del Rocio University Hospital Cardiology and Cardiovascular Surgery Service, Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Garcia Pavia","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, Netherlands"},{"name":"Cardiomyopathy Unit. Heart Transplant Unit, Puerta de Hierro University Hospital of Majadahonda, Majadahonda, Spain"},{"name":"CNIC, Spanish National Cardiovascular Research Center, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Ripoll","sequence":"additional","affiliation":[{"name":"Cardiology, Hospital Son Llatzer, Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Climent-Pay\u00e1","sequence":"additional","affiliation":[{"name":"Servicio de Cardiologia, Alacant Hospital General, Alicante, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gallego Delgado","sequence":"additional","affiliation":[{"name":"Complejo asistencial de Salamanca, Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Zorio","sequence":"additional","affiliation":[{"name":"La Fe University and Polytechnic Hospital, Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0325-7349","authenticated-orcid":false,"given":"Francisco Jos\u00e9","family":"Bermudez Jimenez","sequence":"additional","affiliation":[{"name":"Cardiology, University Hospital Centre Virgen de las Nieves, Granada, Spain"},{"name":"Fundaci\u00f3n Centro Nacional de Investigaciones Cardiovasculares Carlos III Servicio de Documentaci\u00f3n Cient\u00edfica, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Manuel","family":"Garc\u00eda-Pinilla","sequence":"additional","affiliation":[{"name":"Cardiology, University Hospital Virgen de la Victoria, Malaga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"M\u00e9ndez Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Gregorio Maranon General University Hospital Cardiology Service, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-1748","authenticated-orcid":false,"given":"Maria","family":"Sabater-Molina","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, Netherlands"},{"name":"Genetic Diagnostic Laboratory, Virgen de la Arrixaca University Hospital, El Palmar, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Perez Asensio","sequence":"additional","affiliation":[{"name":"Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"March\u00e1n-Lopez","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Arribas Ynsaurriaga","sequence":"additional","affiliation":[{"name":"Cardiology, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hector","family":"Bueno","sequence":"additional","affiliation":[{"name":"CNIC, Spanish National Cardiovascular Research Center, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9400-7577","authenticated-orcid":false,"given":"Juli\u00e1n A","family":"Palomino Doza","sequence":"additional","affiliation":[{"name":"Cardiolog\u00eda, 12 de Octubre University Hospital, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,11,24]]},"reference":[{"key":"2025081612180019000_11.2.e002891.1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2014-306776"},{"key":"2025081612180019000_11.2.e002891.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2019.08.1057"},{"key":"2025081612180019000_11.2.e002891.3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0181465","article-title":"Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy","volume":"12","author":"Mademont-Soler","year":"2017","journal-title":"PLoS One"},{"key":"2025081612180019000_11.2.e002891.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.09.008"},{"key":"2025081612180019000_11.2.e002891.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2011.01.014"},{"key":"2025081612180019000_11.2.e002891.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2016.03.003"},{"key":"2025081612180019000_11.2.e002891.7","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-011-9268-3"},{"key":"2025081612180019000_11.2.e002891.8","unstructured":"Salar Alcaraz M , Mart\u00ednez S\u00e1nchez J , P\u00e9rez S\u00e1nchez I , et al . 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