{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:45:13Z","timestamp":1787589913669,"version":"build-2736575974"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"vor","delay-in-days":415,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T00:00:00Z","timestamp":1735516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004411","name":"Heart and Stroke Foundation of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004411","name":"Heart and Stroke Foundation of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Our prospective cohort study was conducted at a multidisciplinary Cardiomyopathy Clinic with 421 patients enrolled (42.5% female, median age 58 years), including 224 patients with dilated cardiomyopathy (DCM, 42.9% female, median age 57 years), 72 with hypertrophic cardiomyopathy (HCM, 43.1% female, median age 60 years), 79 with infiltrative cardiomyopathy (65.8% female, median age 70 years) and 46 who were stage A\/at risk for genetic cardiomyopathy (54.3% female, median age 36 years). Patients were seen in follow-up at a median of 18 months. A pathogenic\/likely pathogenic variant was identified in 28.5% of the total cohort, including 33.3% of the DCM cohort (28% TTN mutations) and 34.1% of the HCM cohort (60% MYBPC3 and 20% MYH7) who underwent genetic testing. The use of angiotensin-converting enzyme inhibitors\/angiotensin receptor blockers\/angiotensin receptor neprilysin inhibitor (48.3\u201369.5% of total cohort, P &amp;lt; 0.001), \u03b2-blockers (58.4\u201372.4%, P &amp;lt; 0.001), mineralocorticoid receptor antagonists (33.9\u201341.4%, P = 0.0014) and sodium\/glucose cotransporter-2 inhibitors (5.3\u201327.9%, P &amp;lt; 0.001) all increased at follow-up. Precision-based therapies were also implemented, including tafamidis for transthyretin amyloidosis (n = 21), enzyme replacement therapy for Fabry disease (n = 14) and mavacamten (n = 4) for HCM. Optimization of medications and devices resulted in improvements in left ventricular ejection fraction (LVEF) from 27% to 43% at follow-up for DCM patients with reduced LVEF at baseline (P &amp;lt; 0.001) and reduction in left ventricular mass index (LVMI) from 156 g\/m2 to 128 g\/m2 at follow-up for HCM patients with abnormal LVMI at baseline (P = 0.009). Optimization of therapies was associated with stable plasma biomarkers in stage B patients while lowering levels of BNP (619\u2013517.5 pg\/mL, P = 0.048), NT-proBNP (777.5\u2013356 ng\/L, P &amp;lt; 0.001) and hsTropT (31\u201322 ng\/L, P = 0.005) at follow-up relative to baseline values for stage C patients. Despite stage B patients having overt cardiomyopathy at baseline, stage A and B patients had a similarly high probability of survival (\u03c72 = 0.204, P = 0.652). The overall cardiovascular mortality rate was low at 1.7% for the cohort (0.5% for stage B and 3.3% for stage C) over a median of 34-month follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study demonstrates that a multidisciplinary cardiomyopathy clinic can improve the clinical profiles of patients with diverse genetic cardiomyopathies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ehf2.15202","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T00:44:37Z","timestamp":1735605877000},"page":"1942-1955","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Early Genetic Screening and Cardiac Intervention in Patients with Cardiomyopathies in a Multidisciplinary Clinic"],"prefix":"10.1093","volume":"12","author":[{"given":"Chandu","family":"Sadasivan","sequence":"first","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke R.","family":"Gagnon","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepan","family":"Hazra","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaiming","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Youngson","sequence":"additional","affiliation":[{"name":"The Alberta Strategy for Patient Oriented Research Support Unit (AbSPORU) , Edmonton, AB ,","place":["Canada"]},{"name":"Provincial Research Data Services, Alberta Health Services , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jissy","family":"Thomas","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita Y.M.","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, AB ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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