{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:59:40Z","timestamp":1789070380467,"version":"build-2803163510"},"reference-count":14,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T00:00:00Z","timestamp":1645056000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>We report the case of a 22-year-old male who visited a cardiologist after the first episode of atrial fibrillation (AF). Echocardiography and magnetic resonance imaging revealed decreased left ventricular (LV) systolic function with dilated LV. An intermittent second-degree AV (atrioventricular) block was detected during 24 h Holter monitoring. Genetic test revealed the pathogenic variant of the BAG3 (BLC2-associated athanogene 3) gene. Due to the high risk of heart failure (HF) progression and ventricular arrhythmias, an event recorder was implanted and a pathogenetic HF treatment was prescribed. The analysis of genealogy revealed that the patient\u2019s father, at the age of 32, was diagnosed with dilated cardiomyopathy (DCM) and recurrent AF episodes. Genetic testing also confirmed a pathogenic variant of the BAG3 gene. Currently, with the optimal treatment of HF, the patient\u2019s disease has been stable for three years and the condition is closely monitored on an outpatient basis. So, we demonstrate the importance of early detection for genetic testing and the unusual stability exhibited by the patient\u2018s optimal medical therapy for 3 years.<\/jats:p>","DOI":"10.3390\/genes13020363","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T20:25:45Z","timestamp":1645129545000},"page":"363","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"13","author":[{"given":"Karolina","family":"M\u0117linyt\u0117-Ankudavi\u010d\u0117","sequence":"first","affiliation":[{"name":"Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"\u0160ukys","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgita","family":"Plisien\u0117","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaldas","family":"Jurkevi\u010dius","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egl\u0117","family":"Ereminien\u0117","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"},{"name":"Laboratory of Clinical Cardiology, Institute of Cardiology, Lithuanian University of Health Sciences, LT-50162 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations","volume":"72","author":"Dominguez","year":"2018","journal-title":"JACC"},{"key":"ref_2","first-page":"13","article-title":"2017 AHA\/ACC\/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society","volume":"138","author":"Stevenson","year":"2018","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Orphanou, N., Papatheodorou, E., and Anastasakis, A.A. (2021). Dilated cardiomyopathy in the era of precision medicine: Latest concepts and developments. Heart Fail Rev., 1\u201319.","DOI":"10.1007\/s10741-021-10139-0"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Monda, E., Palmiero, G., Rubino, M., Verrillo, F., Amodio, F., Di Fraia, F., Pacileo, R., Fimiani, F., Esposito, A., and Cirillo, A. (2020). Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21186462"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2996","DOI":"10.1016\/j.jacc.2016.03.590","article-title":"The Diagnosis and Evaluation of Dilated Cardiomyopathy","volume":"67","author":"Japp","year":"2016","journal-title":"J. Am. Coll Cardiol."},{"key":"ref_6","first-page":"362","article-title":"Dilated cardiomyopathy: From epidemiologic to genetic phenotypes","volume":"286","author":"Reichart","year":"2019","journal-title":"Intern. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ejhf.1461","article-title":"Heart failure in cardiomyopathies: A position paper from the Heart Failure Association of the European Society of Cardiology","volume":"21","author":"Polovina","year":"2019","journal-title":"Eur. J. Heart Fail."},{"key":"ref_8","first-page":"4","article-title":"Risk Stratification in Patients with Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing","volume":"72","author":"Monserrat","year":"2019","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"ytab391","DOI":"10.1093\/ehjcr\/ytab391","article-title":"The promise and challenges of precision medicine in dilated cardiomyopathy","volume":"5","author":"Mason","year":"2021","journal-title":"Eur. Heart J. -Case Rep."},{"key":"ref_10","first-page":"2012","article-title":"The Mutations Associated with Dilated Cardiomyopathy","volume":"12","author":"Parvari","year":"2012","journal-title":"Int. J. Biochem Res. Rev."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s10741-019-09899-7","article-title":"Advances in the role and mechanism of BAG3 in dilated cardiomyopathy","volume":"26","author":"Liu","year":"2021","journal-title":"Heart Fail Rev."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2942","DOI":"10.1038\/s41467-021-23272-z","article-title":"Cardiomyocyte contractile impairment in heart failure results from reduced BAG3-mediated sarcomere protein turnover","volume":"12","author":"Martin","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2482","DOI":"10.1016\/j.jacc.2018.08.2180","article-title":"The Clinical Course of a Genetic Dilated Cardiomyopathy: Letting the Cat Out of the BAG3","volume":"72","author":"Shaw","year":"2018","journal-title":"J. Am. Coll Cardiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"H2339","DOI":"10.1152\/ajpheart.00419.2020","article-title":"BAG3 expression and sarcomere localization in the human heart are linked to HSF-1 and are differentially affected by sex and disease","volume":"320","author":"Martin","year":"2021","journal-title":"Am. J. Physiol. Heart Circ. Physiol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/363\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:21:28Z","timestamp":1760134888000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,17]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["genes13020363"],"URL":"https:\/\/doi.org\/10.3390\/genes13020363","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,17]]}}}