{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:37:14Z","timestamp":1791247034519,"version":"4.1.0"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"21","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2024,11,5]]},"abstract":"<jats:sec xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Although genetic variants in\n                      <jats:italic toggle=\"no\">MYH7<\/jats:italic>\n                      are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric\n                      <jats:italic toggle=\"no\">MYH7<\/jats:italic>\n                      \u2010related DCM.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.54 [interquartile range, 0.01\u201310.8] years) with pathogenic\/likely pathogenic variants in\n                      <jats:italic toggle=\"no\">MYH7<\/jats:italic>\n                      diagnosed with DCM at pediatric age (&lt;18\u2009years) followed at 13 international centers. We also explored risk factors associated with a composite end point of end\u2010stage heart failure defined as heart transplantation or heart failure\u2013related death. Twenty\u2010two patients (50%) were diagnosed at age &lt;6\u2009months, including 7 (16%) at birth. Left ventricular (LV) hypertrabeculation features were present in 15 (38%), particularly among patients with genetic variants in the head domain. After a median follow\u2010up of 6.1\u2009years (interquartile range, 1.9\u201313.4), 15 patients (36%) required a heart transplant (n=14) or died due to end\u2010stage heart failure (n=1), 15 patients (36%) persisted with systolic dysfunction despite treatment, 12 (29%) had a significant increase in LV ejection fraction, and 2 were lost to follow\u2010up. Overall, end\u2010stage heart failure event rate was 25% at 5\u2009years. New York Heart Association class III to IV (hazard ratio [HR], 7.67 [95% CI, 2.16\u201327.2];\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.002) and LV ejection fraction \u226435% (HR, 4.00 [95% CI, 1.11\u201314.4];\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.03) were the best predictors of bad prognosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Pediatric\n                      <jats:italic toggle=\"no\">MYH7<\/jats:italic>\n                      \u2010related DCM is characterized by early onset, frequent LV hypertrabeculation, and poor prognosis. Advanced New York Heart Association class and low LV ejection fraction emerged as predictors of end\u2010stage heart failure.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/jaha.124.036208","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T05:48:11Z","timestamp":1730699291000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Features and Outcomes of Pediatric\n                    <i>MYH7<\/i>\n                    \u2010Related Dilated Cardiomyopathy"],"prefix":"10.1161","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4350-3217","authenticated-orcid":false,"given":"Fernando","family":"de Frutos","sequence":"first","affiliation":[{"name":"IDIPHISA","place":["Madrid, Spain"]},{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC)","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Pablo","family":"Ochoa","sequence":"additional","affiliation":[{"name":"IDIPHISA","place":["Madrid, Spain"]},{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC)","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9107-8342","authenticated-orcid":false,"given":"Gregory","family":"Webster","sequence":"additional","affiliation":[{"name":"Northwestern University Feinberg School of Medicine","place":["Chicago, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0896-4440","authenticated-orcid":false,"given":"Mark","family":"Jansen","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Utrecht University","place":["Utrecht, the Netherlands"]},{"name":"Utrecht University","place":["Utrecht, the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-4469","authenticated-orcid":false,"given":"Paloma","family":"Remior","sequence":"additional","affiliation":[{"name":"IDIPHISA","place":["Madrid, Spain"]},{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Harvard Medical School","place":["Boston, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten B.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Aarhus University Hospital","place":["Aarhus, Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-1748","authenticated-orcid":false,"given":"Maria","family":"Sabater\u2010Molina","sequence":"additional","affiliation":[{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Universidad de Murcia","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6721-3487","authenticated-orcid":false,"given":"Roberto","family":"Barriales\u2010Villa","sequence":"additional","affiliation":[{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"Complexo Hospitalario Universitario A Coru\u00f1a, INIBIC","place":["A Coru\u00f1a, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9143-3597","authenticated-orcid":false,"given":"Francesca","family":"Girolami","sequence":"additional","affiliation":[{"name":"Meyer Children\u2019s Hospital IRCCS","place":["Florence, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2798-1756","authenticated-orcid":false,"given":"Sergi","family":"Cesar","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat","place":["Barcelona, Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u","place":["Esplugues de Llobregat, Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1239-1275","authenticated-orcid":false,"given":"M. Eugenia","family":"Fuentes\u2010Ca\u00f1amero","sequence":"additional","affiliation":[{"name":"Complejo Hospitalario Universitario de Badajoz","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reyes","family":"Alvarez Garc\u00eda\u2010Rov\u00e9s","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Gregorio Mara\u00f1\u00f3n","place":["Madrid, Spain"]},{"name":"Universidad Complutense","place":["Madrid, Spain"]},{"name":"Instituto de Investigaci\u00f3n Sanitaria Gregorio Mara\u00f1\u00f3n","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7682-7387","authenticated-orcid":false,"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Cochin Hospital","place":["Paris Cedex 14, France"]},{"name":"Universit\u00e9 Paris\u2010Cit\u00e9","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3644-9494","authenticated-orcid":false,"given":"Javier","family":"Limeres","sequence":"additional","affiliation":[{"name":"Instituto de Salud Carlos III","place":["Madrid, Spain"]},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Vall Hebron Hospital","place":["Barcelona, Spain"]},{"name":"Universitat Aut\u00f2noma Barcelona (UAB)","place":["Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-0949","authenticated-orcid":false,"given":"Milos","family":"Kubanek","sequence":"additional","affiliation":[{"name":"Institute for Clinical and Experimental Medicine","place":["Prague, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8198-511X","authenticated-orcid":false,"given":"Martijn G.","family":"Slieker","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Utrecht University","place":["Utrecht, the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-8904","authenticated-orcid":false,"given":"Georgia","family":"Sarquella\u2010Brugada","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat","place":["Barcelona, Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u","place":["Esplugues de Llobregat, Barcelona, Spain"]},{"name":"Universitat de Girona","place":["Spain"]},{"name":"Universitat de Barcelona","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5266-2805","authenticated-orcid":false,"given":"Dominic J.","family":"Abrams","sequence":"additional","affiliation":[{"name":"Harvard Medical School","place":["Boston, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0312-5354","authenticated-orcid":false,"given":"Dennis","family":"Dooijes","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Utrecht University","place":["Utrecht, the 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Diseases of the Heart: ERN GUARD\u2010Heart","place":["Amsterdam, the Netherlands"]},{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC)","place":["Madrid, Spain"]},{"name":"Universidad Francisco de Vitoria","place":["Pozuelo de Alarc\u00f3n, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the European Genetic Cardiomyopathies Initiative 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WHO Child Growth Standards based on length\/height, weight and age. Acta Paediatr. 2007;95:76\u201385.","journal-title":"Acta Paediatr"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/heart.86.6.666"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehx808"},{"key":"e_1_3_1_21_2","unstructured":"Anon. 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