{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:46:39Z","timestamp":1764103599958,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T00:00:00Z","timestamp":1758067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Early detection of familial dilated cardiomyopathy (DCM) is crucial for initiating timely interventions. Myocardial work (MW) analysis, which integrates strain imaging and blood pressure, shows promise in identifying subclinical disease. To assess the utility of MW in detecting early myocardial changes in relatives of DCM patients with a positive genotype (G+) compared to genotype-negative (G\u2212) controls. Methods: This study involved asymptomatic relatives of DCM patients who underwent comprehensive echocardiographic evaluation, including MW analysis. Subjects (N = 77) were classified into G+ (n = 39) and (n = 38) groups based on genetic testing. Myocardial work parameters\u2014myocardial global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE)\u2014were measured. Statistical analyses compared these parameters between groups and assessed their predictive value for genotype status. Follow-up data were collected and analysed accordingly. Results: Among 77 participants (mean age 36 \u00b1 14 years; 49% women), there were no significant differences in baseline characteristics between G+ and G\u2212 groups. S\u2019 septal, s\u2032 average, e\u2032 lateral, E max and E\/A were found to be significantly different between the two groups. G+ individuals had significantly reduced GWE (94% vs. 96%, p &lt; 0.001) and increased GWW (113 mmHg% vs. 80 mmHg%, p = 0.001). After adjustment for significant echocardiographic parameters, GWE (OR = 0.746, 95% CI: 0.560\u20130.994, p = 0.045) and GWW (OR = 1.012, 95% CI: 1.002\u20131.024, p = 0.047) remained significant predictors of gene carrier status in multivariable analysis. The addition of GWE and GWW significantly increased the area under the curve of a model identifying G+ individuals (p &lt; 0.05). During a median period of follow-up of 53 months, 16 (21%) individuals expressed a cardiomyopathy phenotype. There was a significant correlation between increased baseline GWW, reduced GWE, and the expression of cardiomyopathy phenotype. Conclusions: Myocardial work analysis, specifically GWE and GWW, identifies early myocardial dysfunction in asymptomatic carriers of genetic variants for DCM. These findings suggest that MW could complement traditional imaging in the early detection and management of familial DCM.<\/jats:p>","DOI":"10.3390\/diagnostics15182363","type":"journal-article","created":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T13:03:02Z","timestamp":1758114182000},"page":"2363","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Early Detection of Subclinical Myocardial Dysfunction in Familial Dilated Cardiomyopathy Using Myocardial Work Analysis"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8752-9115","authenticated-orcid":false,"given":"Apostolos","family":"Vrettos","sequence":"first","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9941-8367","authenticated-orcid":false,"given":"Ricardo Prista","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miltiadis","family":"Triantafyllou","sequence":"additional","affiliation":[{"name":"Clinical Cardiology at Halmstad Hospital, SE-301 85 Halmstad, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9075-2876","authenticated-orcid":false,"given":"Uzma","family":"Gul","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjeev","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"},{"name":"William Harvey Research Institute, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK"},{"name":"Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"},{"name":"NIHR University College London Hospitals Biomedical Research Centre, London NW1 2PB, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds R.","family":"Lopes","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"},{"name":"Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"},{"name":"Inherited Cardiovascular Diseases Unit, St Bartholomew\u2019s Hospital, London EC1A 7BE, UK"},{"name":"Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexios","family":"Antonopoulos","sequence":"additional","affiliation":[{"name":"First Cardiology Department, National and Kapodistrian University of Athens, 10679 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[{"name":"Inherited Cardiovascular Diseases Unit, St Bartholomew\u2019s Hospital, London EC1A 7BE, UK"},{"name":"Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"},{"name":"William Harvey Research Institute, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK"},{"name":"Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"},{"name":"NIHR University College London Hospitals Biomedical Research Centre, London NW1 2PB, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6260-9813","authenticated-orcid":false,"given":"Thomas","family":"Gossios","sequence":"additional","affiliation":[{"name":"First Cardiology Department, University General Hospital of Thessaloniki AHEPA, 54636 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Savvatis","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew\u2019s Hospital, Barts Health NHS Trust, London EC1A 7BE, UK"},{"name":"William Harvey Research Institute, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK"},{"name":"Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"},{"name":"NIHR University College London Hospitals Biomedical Research Centre, London NW1 2PB, UK"},{"name":"Inherited Cardiovascular Diseases Unit, St Bartholomew\u2019s Hospital, London EC1A 7BE, UK"},{"name":"Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1093\/eurheartj\/ehq271","article-title":"Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"31","author":"Charron","year":"2010","journal-title":"Eur. 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