{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T04:37:15Z","timestamp":1778647035297,"version":"3.51.4"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T00:00:00Z","timestamp":1691366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T00:00:00Z","timestamp":1691366400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J. of Cardiovasc. Trans. Res."],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Predictors of myocardial recovery in heart failure (HF) are poorly understood. We explored if vinculin (<jats:italic>VCL<\/jats:italic>) variants are associated with myocardial recovery in dilated cardiomyopathy (DCM). Six infants with DCM with a <jats:italic>VCL<\/jats:italic> loss-of-function (LOF) variant were identified. Median age at diagnosis was 2 months, median LV ejection fraction was 24%, and median LV end-diastolic diameter <jats:italic>z<\/jats:italic>-score was 10.8. All patients received HF medications. Five patients (83%) showed normalization of LV function at a median age of 2.7 years. One patient progressed to end-stage HF requiring heart transplant. This case series identified a unique phenotype of HF with reduced ejection fraction at presentation that evolved to HF with recovered EF in over 80% of infant DCM cases with LOF <jats:italic>VCL<\/jats:italic> variants. These findings have prognostic implications for counseling and management of <jats:italic>VCL<\/jats:italic>-associated DCM and highlight a possible genetic basis for HF with recovered ejection fraction.<\/jats:p>\n                <jats:p><jats:bold>Graphical abstract<\/jats:bold><\/jats:p>","DOI":"10.1007\/s12265-023-10421-6","type":"journal-article","created":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T15:01:47Z","timestamp":1691420507000},"page":"1303-1309","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Heart Failure with Recovered Ejection Fraction in Patients with Vinculin Loss-of-function Variants"],"prefix":"10.1007","volume":"16","author":[{"given":"Laura","family":"Zahavich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajadurai","family":"Akilen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"George","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7643-4484","authenticated-orcid":false,"given":"Seema","family":"Mital","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,7]]},"reference":[{"key":"10421_CR1","doi-asserted-by":"publisher","first-page":"e9","DOI":"10.1161\/cir.0000000000000682","volume":"140","author":"SE Lipshultz","year":"2019","unstructured":"Lipshultz SE, Law YM, Asante-Korang A, Austin ED, Dipchand AI, Everitt MD, Hsu DT, Lin KY, Price JF, Wilkinson JD, et al. Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association. Circulation. 2019;140:e9\u2013e68. https:\/\/doi.org\/10.1161\/cir.0000000000000682.","journal-title":"Circulation."},{"issue":"401-413","key":"10421_CR2","doi-asserted-by":"publisher","first-page":"vii","DOI":"10.1016\/j.hfc.2010.05.002","volume":"6","author":"JD Wilkinson","year":"2010","unstructured":"Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, et al. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010;6(401-413):vii. https:\/\/doi.org\/10.1016\/j.hfc.2010.05.002.","journal-title":"Heart Fail Clin."},{"key":"10421_CR3","doi-asserted-by":"publisher","first-page":"e022854","DOI":"10.1161\/jaha.121.022854","volume":"11","author":"RS Khan","year":"2022","unstructured":"Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G. Genotype and cardiac outcomes in pediatric dilated cardiomyopathy. J Am Heart Assoc. 2022;11:e022854. https:\/\/doi.org\/10.1161\/jaha.121.022854.","journal-title":"J Am Heart Assoc."},{"key":"10421_CR4","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.ajhg.2021.12.006","volume":"109","author":"SM Ware","year":"2022","unstructured":"Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, et al. The genetic architecture of pediatric cardiomyopathy. Am J Hum Genet. 2022;109:282\u201398. https:\/\/doi.org\/10.1016\/j.ajhg.2021.12.006.","journal-title":"Am J Hum Genet."},{"key":"10421_CR5","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1016\/s0002-9440(10)63364-0","volume":"165","author":"AE Zemljic-Harpf","year":"2004","unstructured":"Zemljic-Harpf AE, Ponrartana S, Avalos RT, Jordan MC, Roos KP, Dalton ND, Phan VQ, Adamson ED, Ross RS. Heterozygous inactivation of the vinculin gene predisposes to stress-induced cardiomyopathy. Am J Pathol. 2004;165:1033\u201344. https:\/\/doi.org\/10.1016\/s0002-9440(10)63364-0.","journal-title":"Am J Pathol."},{"key":"10421_CR6","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1161\/hc0402.102930","volume":"105","author":"TM Olson","year":"2002","unstructured":"Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002;105:431\u20137. https:\/\/doi.org\/10.1161\/hc0402.102930.","journal-title":"Circulation."},{"key":"10421_CR7","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/gim.2013.204","volume":"16","author":"TJ Pugh","year":"2014","unstructured":"Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16:601\u20138. https:\/\/doi.org\/10.1038\/gim.2013.204.","journal-title":"Genet Med."},{"key":"10421_CR8","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1002\/humu.24061","volume":"41","author":"MH Hawley","year":"2020","unstructured":"Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, et al. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. 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Informed consent was obtained from all patients for being included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval and Consent to Participate"}},{"value":"No animal studies were carried out by the authors for this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Animal Studies"}},{"value":"SM serves on the Hypertrophic Cardiomyopathy Advisory Board of Bristol Myers Squibb, and is a Consultant for Tenaya Therapeutics. The remaining authors have nothing to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}