{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T14:10:40Z","timestamp":1791641440761,"version":"4.3.4"},"reference-count":49,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>The 2 sarcomere genes most commonly associated with hypertrophic cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (\u03b2-myosin heavy chain), are indistinguishable at presentation, and genotype-phenotype correlations have been elusive. Based on molecular and pathophysiological differences, however, it is plausible to hypothesize a different behavior in myocardial performance, impacting lifetime changes in left ventricular (LV) function.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>METHODS:<\/jats:title>\n            <jats:p>We reviewed the initial and final echocardiograms of 402 consecutive HCM patients with pathogenic or likely pathogenic MYBPC3 (n=251) or MYH7 (n=151) mutations, followed over 9\u00b18 years.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>\n              At presentation, MYBPC3 patients were less frequently obstructive (15% versus 26%;\n              <jats:italic>P<\/jats:italic>\n              =0.005) and had lower LV ejection fraction compared with MYH7 (66\u00b18% versus 68\u00b18%, respectively;\n              <jats:italic>P<\/jats:italic>\n              =0.03). Both HCM patients harboring MYBPC3 and MYH7 mutations exhibited a small but significant decline in LV systolic function during follow-up; however, new onset of severe LV systolic dysfunction (LV ejection fraction, &lt;50%) was greater among MYBPC3 patients (15% versus 5% among MYH7;\n              <jats:italic>P<\/jats:italic>\n              =0.013). Prevalence of grade II\/III diastolic dysfunction at final evaluation was comparable between MYBPC3 and MYH7 patients (\n              <jats:italic>P<\/jats:italic>\n              =0.509). In a Cox multivariable analysis, MYBPC3-positive status (hazard ratio, 2.53 [95% CI, 1.09\u20135.82];\n              <jats:italic>P<\/jats:italic>\n              =0.029), age (hazard ratio, 1.03 [95% CI, 1.00\u20131.06];\n              <jats:italic>P<\/jats:italic>\n              =0.027), and atrial fibrillation (hazard ratio, 2.39 [95% CI, 1.14\u20135.05];\n              <jats:italic>P<\/jats:italic>\n              =0.020) were independent predictors of severe systolic dysfunction. No statistically significant differences occurred with regard to incidence of atrial fibrillation, heart failure, appropriate implanted cardioverter defibrillator shock, or cardiovascular death.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSIONS:<\/jats:title>\n            <jats:p>MYBPC3-related HCM showed increased long-term prevalence of systolic dysfunction compared with MYH7, in spite of similar outcome. Such observations suggest different pathophysiology of clinical progression in the 2 subsets and may prove relevant for understanding of genotype-phenotype correlations in HCM.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgen.122.003832","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T09:01:45Z","timestamp":1688634105000},"page":"363-371","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy"],"prefix":"10.1161","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7161-3224","authenticated-orcid":true,"given":"Matteo","family":"Beltrami","sequence":"first","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (M.B., C.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fedele","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Policlinico Casilino, Rome, Italy (E.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Fumagalli","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (M.B., C.F.)."},{"name":"Department of Advanced Medical and Surgical Sciences, Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli,\u201d Naples, Italy (C.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6159-9980","authenticated-orcid":true,"given":"Francesco","family":"Mazzarotto","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, Italy (F.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9143-3597","authenticated-orcid":true,"given":"Francesca","family":"Girolami","sequence":"additional","affiliation":[{"name":"Meyer Children\u2019s Hospital, IRCSS, Florence, Italy (F.G., I.O.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3757-1363","authenticated-orcid":true,"given":"Cecilia","family":"Ferrantini","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine (C.F., C.P., I.O.), University of Florence, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4096-3173","authenticated-orcid":true,"given":"Raffaele","family":"Coppini","sequence":"additional","affiliation":[{"name":"Division of Pharmacology, Department of Neuroscience, Psychology, Drug Sciences and Child Health (NeuroFarBa) (R.C.), University of Florence, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9965-7667","authenticated-orcid":true,"given":"Lorenzo","family":"Tofani","sequence":"additional","affiliation":[{"name":"Department of Statistics, Computer Science, Applications (L.T., B.B.), University of Florence, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-2964","authenticated-orcid":true,"given":"Bruno","family":"Bertaccini","sequence":"additional","affiliation":[{"name":"Department of Statistics, Computer Science, Applications (L.T., B.B.), University of Florence, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2624-4778","authenticated-orcid":true,"given":"Corrado","family":"Poggesi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine (C.F., C.P., I.O.), University of Florence, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1751-9266","authenticated-orcid":true,"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Meyer Children\u2019s Hospital, IRCSS, Florence, Italy (F.G., I.O.)."},{"name":"Department of Experimental and Clinical Medicine (C.F., C.P., I.O.), University of Florence, 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