{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:44:00Z","timestamp":1787028240937,"version":"build-2736575974"},"reference-count":160,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"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>Heart failure (HF) remains a leading cause of morbidity and mortality worldwide. Despite significant advances in pharmacological therapies, responses to treatment vary widely among patients. Growing evidence suggests that genetic factors play a crucial role in influencing individual responses to HF therapies. Genetic variations, including single-nucleotide polymorphisms (SNPs), gene expression profiles, and epigenetic modifications, have been shown to affect drug metabolism, receptor sensitivity, and the molecular pathways involved in HF progression. These genetic determinants may not only predict the efficacy of common therapeutic agents such as angiotensin-converting enzyme inhibitors, beta-blockers, mineralocorticoid receptor antagonists, and sodium-glucose cotransporter-2 inhibitors, but also help identify patients at risk of adverse drug reactions. As personalized medicine continues to advance, a deeper understanding of the genetic basis of drug response in HF could enable more tailored treatment strategies, improving clinical outcomes and minimizing adverse effects. This review explores the current evidence on the genetic underpinnings of response to HF treatment and discusses its potential implications in clinical practice, highlighting current knowledge gaps.<\/jats:p>","DOI":"10.3390\/genes16070801","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T11:19:27Z","timestamp":1751887167000},"page":"801","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Exploring the Role of Genetic and Genomic Factors in Therapeutic Response to Heart Failure: A Comprehensive Analytical Review"],"prefix":"10.3390","volume":"16","author":[{"given":"Aurora","family":"Ferro","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Sciences, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Universit\u00e0 Campus 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Universit\u00e0 Campus Bio-Medico di Roma, 00128 Rome, Italy"},{"name":"Department of Biomedical Engineering, Intelligent Health Technology Lab, Universit\u00e0 Campus Bio-Medico di Roma, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Cricco","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Cardiovascular Sciences, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Di Cristo","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Cardiovascular Sciences, Department of Medicine and Surgery, 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Heart J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ejhf.2115","article-title":"Universal definition and classification of heart failure: A report of the Heart Failure Society of America, Heart Failure Association of the European Society of Cardiology, Japanese Heart Failure Society and Writing Committee of the Universal Definition of Heart Failure: Endorsed by the Canadian Heart Failure Society, Heart Failure Association of India, Cardiac Society of Australia and New Zealand, and Chinese Heart Failure Association","volume":"23","author":"Bozkurt","year":"2021","journal-title":"Eur. J. Heart Fail."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1016\/S0140-6736(18)32279-7","article-title":"Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990\u20132017: A systematic analysis for the Global Burden of Disease Study 2017","volume":"392","author":"James","year":"2018","journal-title":"The Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3272","DOI":"10.1093\/cvr\/cvac013","article-title":"Global burden of heart failure: A comprehensive and updated review of epidemiology","volume":"118","author":"Savarese","year":"2023","journal-title":"Cardiovasc. Res."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Crispino, S.P., Segreti, A., Nafisio, V., Valente, D., Crisci, F., Ferro, A., Cavallari, I., Nusca, A., Ussia, G.P., and Grigioni, F. (2025). The Role of SGLT2-Inhibitors Across All Stages of Heart Failure and Mechanisms of Early Clinical Benefit: From Prevention to Advanced Heart Failure. Biomedicines, 13.","DOI":"10.3390\/biomedicines13030608"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"263","DOI":"10.21037\/cdt-20-302","article-title":"Pathophysiology of heart failure","volume":"11","author":"Schwinger","year":"2021","journal-title":"Cardiovasc. Diagn. Ther."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3627","DOI":"10.1093\/eurheartj\/ehad195","article-title":"2023 Focused Update of the 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure","volume":"44","author":"McDonagh","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1056\/NEJMoa1915928","article-title":"Vericiguat in Patients with Heart Failure and Reduced Ejection Fraction","volume":"382","author":"Armstrong","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/j.jacbts.2024.04.008","article-title":"Towards Metabolomic-Based Precision Approaches for Classifying and Treating Heart Failure","volume":"9","author":"Hahn","year":"2024","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"222","DOI":"10.24976\/Discov.Med.202537193.19","article-title":"Tailoring Pharmacological Treatment in Cardiogenic Shock: A Narrative Review","volume":"37","author":"Crispino","year":"2025","journal-title":"Discov. Med."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Abdelhalim, H., Berber, A., Lodi, M., Jain, R., Nair, A., Pappu, A., Patel, K., Venkat, V., Venkatesan, C., and Wable, R. (2022). Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.929736"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e8","DOI":"10.1177\/2047487320915548","article-title":"Chemoreceptor hyperactivity in heart failure: Is lactate the culprit?","volume":"28","author":"Segreti","year":"2021","journal-title":"Eur. J. Prev. Cardiol."},{"key":"ref_13","first-page":"601","article-title":"70 anni dello studio di Framingham. L\u2019epidemiologia cardiovascolare dalle origini al futuro","volume":"19","author":"Vanuzzo","year":"2018","journal-title":"G. Ital. Cardiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1002\/cpt.3351","article-title":"Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy","volume":"116","author":"Duarte","year":"2024","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1016\/j.jacc.2018.03.462","article-title":"Genetic Etiology for Alcohol-Induced Cardiac Toxicity","volume":"71","author":"Ware","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1161\/CIRCULATIONAHA.120.052395","article-title":"Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy","volume":"143","author":"Goli","year":"2021","journal-title":"Circulation"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1505517","article-title":"Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies","volume":"374","author":"Ware","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC Guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Ho, J.S.Y., Jou, E., Khong, P.-L., Foo, R.S.Y., and Sia, C.-H. (2024). Epigenetics in Heart Failure. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms252212010"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s10557-023-07492-7","article-title":"Advances in MicroRNA Therapy for Heart Failure: Clinical Trials, Preclinical Studies, and Controversies","volume":"39","author":"Huang","year":"2025","journal-title":"Cardiovasc. Drugs Ther."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/s41588-025-02140-2","article-title":"Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum","volume":"57","author":"Lee","year":"2025","journal-title":"Nat. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1161\/CIRCRESAHA.110.229260","article-title":"The Genomic Architecture of Sporadic Heart Failure","volume":"108","author":"Dorn","year":"2011","journal-title":"Circ. Res."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Appunni, S., Rubens, M., Ramamoorthy, V., Saxena, A., McGranaghan, P., Khosla, A., Doke, M., Chaparro, S., and Jimenez, J. (2024). Molecular remodeling in comorbidities associated with heart failure: A current update. Mol. Biol. Rep., 51.","DOI":"10.1007\/s11033-024-10024-7"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1161\/CIRCRESAHA.117.311865","article-title":"Gene Editing for the Heart: Correcting Dystrophin Mutations","volume":"121","author":"McNally","year":"2017","journal-title":"Circ. Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1093\/eurheartj\/ehad778","article-title":"Dilated cardiomyopathy: Second hits knock-down the heart","volume":"45","author":"Verdonschot","year":"2024","journal-title":"Eur. Heart J."},{"key":"ref_26","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_27","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1161\/CIRCULATIONAHA.123.064847","article-title":"Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study","volume":"148","author":"Hofmeyer","year":"2023","journal-title":"Circulation"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.cardfail.2018.03.004","article-title":"Genetic Evaluation of Cardiomyopathy\u2014A Heart Failure Society of America Practice Guideline","volume":"24","author":"Hershberger","year":"2018","journal-title":"J. Card. Fail."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e70139","DOI":"10.1002\/hsr2.70139","article-title":"Pharmacogenomics revolutionizing cardiovascular therapeutics: A narrative review","volume":"7","author":"Inshutiyimana","year":"2024","journal-title":"Health Sci. Rep."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Papadopoulou, E., Bouzarelou, D., Tsaousis, G., Papathanasiou, A., Vogiatzi, G., Vlachopoulos, C., Miliou, A., Papachristou, P., Prappa, E., and Servos, G. (2023). Application of next generation sequencing in cardiology: Current and future precision medicine implications. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1202381"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Rabkin, S.W., and Wong, C.N. (2023). Epigenetics in Heart Failure: Role of DNA Methylation in Potential Pathways Leading to Heart Failure with Preserved Ejection Fraction. Biomedicines, 11.","DOI":"10.3390\/biomedicines11102815"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1152\/physrev.00037.2019","article-title":"Role of the Epigenome in Heart Failure","volume":"100","author":"Papait","year":"2020","journal-title":"Physiol. Rev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/s41392-022-01055-2","article-title":"Epigenetic regulation in cardiovascular disease: Mechanisms and advances in clinical trials","volume":"7","author":"Shi","year":"2022","journal-title":"Signal Transduct. Target. Ther."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/38444","article-title":"Crystal structure of the nucleosome core particle at 2.8\u2009\u00c5 resolution","volume":"389","author":"Luger","year":"1997","journal-title":"Nature"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.15252\/embr.201540749","article-title":"The H1 linker histones: Multifunctional proteins beyond the nucleosomal core particle","volume":"16","author":"Hergeth","year":"2015","journal-title":"EMBO Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.yjmcc.2017.11.012","article-title":"Resident fibroblast expansion during cardiac growth and remodeling","volume":"114","author":"Ivey","year":"2018","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1126\/science.1147939","article-title":"UHRF1 Plays a Role in Maintaining DNA Methylation in Mammalian Cells","volume":"317","author":"Bostick","year":"2007","journal-title":"Science"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.yjmcc.2013.12.013","article-title":"Class I HDACs regulate angiotensin II-dependent cardiac fibrosis via fibroblasts and circulating fibrocytes","volume":"67","author":"Williams","year":"2014","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/j.cardfail.2018.07.011","article-title":"Epigenomic Control of Cardiac Fibrosis by Bet Bromodomain Proteins in Dilated Cardiomyopathy","volume":"24","author":"Burke","year":"2018","journal-title":"J. Card. Fail."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1161\/CIRCULATIONAHA.119.039287","article-title":"Dissecting Chromatin Architecture for Novel Cardiovascular Disease Targets","volume":"140","author":"Foo","year":"2019","journal-title":"Circulation"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1161\/CIRCULATIONAHA.118.036726","article-title":"Robust CTCF-Based Chromatin Architecture Underpins Epigenetic Changes in the Heart Failure Stress\u2013Gene Response","volume":"139","author":"Lee","year":"2019","journal-title":"Circulation"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1161\/CIRCULATIONAHA.117.029430","article-title":"High-Resolution Mapping of Chromatin Conformation in Cardiac Myocytes Reveals Structural Remodeling of the Epigenome in Heart Failure","volume":"136","author":"Chapski","year":"2017","journal-title":"Circulation"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/s41586-019-1406-x","article-title":"Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy","volume":"572","author":"Lee","year":"2019","journal-title":"Nature"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.cell.2017.09.018","article-title":"Genome-Nuclear Lamina Interactions Regulate Cardiac Stem Cell Lineage Restriction","volume":"171","author":"Poleshko","year":"2017","journal-title":"Cell"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Angrisano, T., Schiattarella, G.G., Keller, S., Pironti, G., Florio, E., Magliulo, F., Bottino, R., Pero, R., Lembo, F., and Avvedimento, E.V. (2014). Epigenetic Switch at Atp2a2 and Myh7 Gene Promoters in Pressure Overload-Induced Heart Failure. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0106024"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.cell.2013.07.013","article-title":"BET Bromodomains Mediate Transcriptional Pause Release in Heart Failure","volume":"154","author":"Anand","year":"2013","journal-title":"Cell"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.2217\/epi-2023-0281","article-title":"CRISPR-Based Epigenome Editing: Mechanisms and Applications","volume":"15","author":"Fadul","year":"2023","journal-title":"Epigenomics"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/j.jacbts.2019.05.011","article-title":"Epigenetics in Cardiac Hypertrophy and Heart Failure","volume":"4","author":"Liu","year":"2019","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ejhf.3516","article-title":"State of the art and perspectives of gene therapy in heart failure. A scientific statement of the Heart Failure Association of the ESC, the ESC Council on Cardiovascular Genomics and the ESC Working Group on Myocardial & Pericardial Diseases","volume":"27","author":"Stellos","year":"2025","journal-title":"Eur. J. Heart Fail."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.cardfail.2012.01.002","article-title":"Genetic Tailoring of Pharmacotherapy in Heart Failure: Optimize the Old, While We Wait for Something New","volume":"18","author":"Talameh","year":"2012","journal-title":"J. Card. Fail."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"e189","DOI":"10.1002\/cpz1.189","article-title":"Pharmacogenomics in Cardiovascular Diseases","volume":"1","author":"McDonough","year":"2021","journal-title":"Curr. Protoc."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"749","DOI":"10.7326\/0003-4819-145-10-200611210-00007","article-title":"Pharmacogenomics: Challenges and Opportunities","volume":"145","author":"Roden","year":"2006","journal-title":"Ann. Intern. Med."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Liu, W.-N., Fu, K.-L., Gao, H.-Y., Shang, Y.-Y., Wang, Z.-H., Jiang, G.-H., Zhang, Y., Zhang, W., and Zhong, M. (2012). \u03b21 Adrenergic Receptor Polymorphisms and Heart Failure: A Meta-Analysis on Susceptibility, Response to \u03b2-Blocker Therapy and Prognosis. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0037659"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"176907","DOI":"10.1016\/j.ejphar.2024.176907","article-title":"Pharmacogenetics of angiotensin-converting enzyme inhibitors (ACEI) and angiotensin II receptor blockers (ARB) in cardiovascular diseases","volume":"981","author":"Agostini","year":"2024","journal-title":"Eur. J. Pharmacol."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Abou Warda, A.E., Flohr, R.M., Sarhan, R.M., Salem, M.N., Salem, H.F., Moharram, A.N., Alanazi, A.S., Lteif, C., Gawronski, B.E., and Dumeny, L. (2025). Genetic polymorphisms in SLC5A2 are associated with clinical outcomes and dapagliflozin response in heart failure patients. Front. Pharmacol., 16.","DOI":"10.3389\/fphar.2025.1539870"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e18636","DOI":"10.7717\/peerj.18636","article-title":"CYP3A4 and CYP3A5: The crucial roles in clinical drug metabolism and the significant implications of genetic polymorphisms","volume":"12","author":"Zhang","year":"2024","journal-title":"PeerJ"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1517\/17425255.4.8.1065","article-title":"The effect of chronic renal failure on drug metabolism and transport","volume":"4","author":"Dreisbach","year":"2008","journal-title":"Expert Opin. Drug Metab. Toxicol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1177\/009127000004000102","article-title":"Cardiovascular Drug Therapy in Patients with Hepatic Diseases and Patients with Congestive Heart Failure","volume":"40","author":"Sokol","year":"2000","journal-title":"J. Clin. Pharmacol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1007\/s00228-025-03817-7","article-title":"Influence of cigarette smoking on drugs\u2019 metabolism and effects: A systematic review","volume":"81","author":"Zanni","year":"2025","journal-title":"Eur. J. Clin. Pharmacol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1124\/mol.109.056572","article-title":"Mechanisms of Pharmacogenomic Effects of Genetic Variation within the Cardiac Adrenergic Network in Heart Failure","volume":"76","author":"Dorn","year":"2009","journal-title":"Mol. Pharmacol."},{"key":"ref_61","first-page":"e83731","article-title":"The Rise of Personalized Medicine in Heart Failure Management: A Narrative Review","volume":"17","author":"Palaparthi","year":"2025","journal-title":"Cureus"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s40246-022-00417-9","article-title":"Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: Initial findings and lessons learned from a pilot study in United Arab Emirates","volume":"16","author":"Khasawneh","year":"2022","journal-title":"Hum. Genom."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Li, M.-Y., Peng, L.-M., and Chen, X.-P. (2022). Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future. Front. Cardiovasc. Med., 9.","DOI":"10.3389\/fcvm.2022.966261"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1111\/joim.13772","article-title":"Precision medicine in cardiovascular therapeutics: Evaluating the role of pharmacogenetic analysis prior to drug treatment","volume":"295","author":"Pirmohamed","year":"2024","journal-title":"J. Intern. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/S0735-1097(02)02927-3","article-title":"Angiotensin-converting enzyme gene polymorphism interacts with left ventricular ejection fraction and brain natriuretic peptide levels to predict mortality after myocardial infarction","volume":"41","author":"Palmer","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Huang, H., Liu, J., Lei, M., Yang, Z., Bao, K., Li, Q., Lai, W., Wang, B., He, Y., and Chen, S. (2021). A Universal New Definition of Heart Failure With Improved Ejection Fraction for Patients With Coronary Artery Disease. Front. Physiol., 12.","DOI":"10.3389\/fphys.2021.770650"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/tpj.2009.39","article-title":"Demonstrating the pharmacogenetic effects of angiotensin-converting enzyme inhibitors on long-term prognosis of diastolic heart failure","volume":"10","author":"Wu","year":"2010","journal-title":"Pharmacogenom. J."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1016\/j.jacc.2004.08.048","article-title":"Pharmacogenetic interactions between angiotensin-converting enzyme inhibitor therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure","volume":"44","author":"McNamara","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1161\/CIRCULATIONAHA.109.914820","article-title":"Pharmacogenomics: The Genetics of Variable Drug Responses","volume":"123","author":"Roden","year":"2011","journal-title":"Circulation"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"10","DOI":"10.2174\/1573403X09666131117170446","article-title":"Genetics and Heart Failure: A Concise Guide for the Clinician","volume":"11","author":"Skrzynia","year":"2014","journal-title":"Curr. Cardiol. Rev."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s11010-011-1115-8","article-title":"Association of angiotensin-converting enzyme I\/D polymorphism with heart failure: A meta-analysis","volume":"361","author":"Bai","year":"2012","journal-title":"Mol. Cell. Biochem."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1345\/aph.1K657","article-title":"Effects of AGTR1 A1166C Gene Polymorphism in Patients with Heart Failure Treated with Candesartan","volume":"42","author":"Denus","year":"2008","journal-title":"Ann. Pharmacother."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2997","DOI":"10.1002\/ehf2.14026","article-title":"Pharmacogenomic study of heart failure and candesartan response from the CHARM programme","volume":"9","author":"Chazara","year":"2022","journal-title":"ESC Heart Fail."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"342","DOI":"10.3349\/ymj.2022.63.4.342","article-title":"Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery","volume":"63","author":"Lee","year":"2022","journal-title":"Yonsei Med. J."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.jacc.2021.05.054","article-title":"Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors","volume":"78","author":"Ghouse","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1124\/dmd.115.068536","article-title":"Sacubitril Is Selectively Activated by Carboxylesterase 1 (CES1) in the Liver and the Activation Is Affected by CES1 Genetic Variation","volume":"44","author":"Shi","year":"2016","journal-title":"Drug Metab. Dispos."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s00228-023-03484-6","article-title":"Association between the NEP rs701109 polymorphism and the clinical efficacy and safety of sacubitril\/valsartan in Chinese patients with heart failure","volume":"79","author":"Luo","year":"2023","journal-title":"Eur. J. Clin. Pharmacol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"e12272","DOI":"10.1111\/1755-5922.12272","article-title":"Pharmacogenomics of angiotensin receptor\/neprilysin inhibitor and its long-term side effects","volume":"35","author":"Krittanawong","year":"2017","journal-title":"Cardiovasc. Ther."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Song, G., Chung, J.-E., Yee, J., Lee, K.-E., Park, K., and Gwak, H.-S. (2021). Effects of SLCO1B1 and SLCO1B3 Genetic Polymorphisms on Valsartan Pharmacokinetics in Healthy Korean Volunteers. J. Pers. Med., 11.","DOI":"10.3390\/jpm11090862"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.jacc.2004.10.032","article-title":"What resting heart rate should one aim for when treating patients with heart failure with a beta-blocker?","volume":"45","author":"Gullestad","year":"2005","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1002\/ejhf.824","article-title":"Recovered heart failure with reduced ejection fraction and outcomes: A prospective study","volume":"19","author":"Domingo","year":"2017","journal-title":"Eur. J. Heart Fail."},{"key":"ref_82","doi-asserted-by":"crossref","unstructured":"(1999). Effect of metoprolol CR\/XL in chronic heart failure: Metoprolol CR\/XL Randomised Intervention Trial in-Congestive Heart Failure (MERIT-HF). Lancet, 353, 2001\u20132007.","DOI":"10.1016\/S0140-6736(99)04440-2"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1161\/HYPERTENSIONAHA.112.198721","article-title":"G protein receptor kinase 4 polymorphisms: \u03b2-Blocker Pharmacogenetics and treatment-related outcomes in Hypertension","volume":"60","author":"Vandell","year":"2012","journal-title":"Hypertension"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1097\/CRD.0000000000000028","article-title":"Pharmacogenomics in heart failure: Where are we now and how can we reach clinical application?","volume":"22","author":"Lanfear","year":"2014","journal-title":"Cardiol. Rev."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"e002210","DOI":"10.1161\/CIRCGEN.117.002210","article-title":"Dose Response of \u03b2-Blockers in Adrenergic Receptor Polymorphism Genotypes","volume":"11","author":"Parikh","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/s41397-021-00257-1","article-title":"Genetic polymorphisms in ADRB2 and ADRB1 are associated with differential survival in heart failure patients taking \u03b2-blockers","volume":"22","author":"Guerra","year":"2022","journal-title":"Pharmacogenom. J."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/nm1750","article-title":"A GRK5 polymorphism that inhibits \u03b2-adrenergic receptor signaling is protective in heart failure","volume":"14","author":"Liggett","year":"2008","journal-title":"Nat. Med."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1007\/s12265-019-09866-5","article-title":"Association of Genetic Polymorphisms in the Beta-1 Adrenergic Receptor with Recovery of Left Ventricular Ejection Fraction in Patients with Heart Failure","volume":"12","author":"Luzum","year":"2019","journal-title":"J Cardiovasc. Transl. Res."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e70239","DOI":"10.1111\/cts.70239","article-title":"The Beta-Blocker Pharmacogenetic Puzzle: More Pieces of Evidence for Pharmacodynamic Candidate Variants","volume":"18","author":"Luzum","year":"2025","journal-title":"Clin. Transl. Sci."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.2217\/pgs-2021-0108","article-title":"The Need to Shift Pharmacogenetic Research from Candidate Gene to Genome-Wide Association Studies","volume":"22","author":"Linskey","year":"2021","journal-title":"Pharmacogenomics"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"e007012","DOI":"10.1161\/CIRCHEARTFAILURE.119.007012","article-title":"Polygenic Score for \u03b2-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure","volume":"13","author":"Lanfear","year":"2020","journal-title":"Circ. Heart Fail."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/cts.12702","article-title":"Effect of Genetic and Nongenetic Factors on the Clinical Response to Mineralocorticoid Receptor Antagonist Therapy in Egyptians with Heart Failure","volume":"13","author":"Sarhan","year":"2020","journal-title":"Clin. Transl. Sci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1002\/phar.2626","article-title":"NR3C2 genotype is associated with response to spironolactone in diastolic heart failure patients from the Aldo-DHF trial","volume":"41","author":"Dumeny","year":"2021","journal-title":"Pharmacotherapy"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"220","DOI":"10.4330\/wjc.v14.i4.220","article-title":"GRK5 is an essential co-repressor of the cardiac mineralocorticoid receptor and is selectively induced by finerenone","volume":"14","author":"Pollard","year":"2022","journal-title":"World J. Cardiol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/cpt.2153","article-title":"Genetic Variation in Sodium-glucose Cotransporter 2 and Heart Failure","volume":"110","author":"Katzmann","year":"2021","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Klen, J., and Dol\u017ean, V. (2021). Treatment Response to SGLT2 Inhibitors: From Clinical Characteristics to Genetic Variations. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22189800"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1002\/jcph.1866","article-title":"Meta-Analysis of Noncompartmental Pharmacokinetic Parameters of Ertugliflozin to Evaluate Dose Proportionality and UGT1A9 Polymorphism Effect on Exposure","volume":"61","author":"Marshall","year":"2021","journal-title":"J. Clin. Pharmacol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"9637","DOI":"10.1007\/s11033-023-08836-0","article-title":"Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitors response","volume":"50","author":"Xu","year":"2023","journal-title":"Mol. Biol. Rep."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/s11897-024-00687-5","article-title":"Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores","volume":"21","author":"Figueiral","year":"2024","journal-title":"Curr. Heart Fail. Rep."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1126\/science.175.4025.949","article-title":"Gene Therapy for Human Genetic Disease?: Proposals for genetic manipulation in humans raise difficult scientific and ethical problems","volume":"175","author":"Friedmann","year":"1972","journal-title":"Science"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"4548","DOI":"10.1093\/eurheartj\/ehac463","article-title":"Small non-coding RNA therapeutics for cardiovascular disease","volume":"43","author":"Shah","year":"2022","journal-title":"Eur. Heart J."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1016\/0006-2952(75)90080-5","article-title":"Radiochemical assay of glutathione S-epoxide transferase and its enhancement by phenobarbital in rat liver in vivo","volume":"24","author":"Marniemi","year":"1975","journal-title":"Biochem. Pharmacol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1002\/ejhf.826","article-title":"Effect of intracoronary administration of AAV1\/SERCA2a on ventricular remodelling in patients with advanced systolic heart failure: Results from the AGENT-HF randomized phase 2 trial","volume":"19","author":"Hulot","year":"2017","journal-title":"Eur. J. Heart Fail."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.cardfail.2009.01.013","article-title":"Calcium Upregulation by Percutaneous Administration of Gene Therapy in Cardiac Disease (CUPID Trial), a First-in-Human Phase 1\/2 Clinical Trial","volume":"15","author":"Jaski","year":"2009","journal-title":"J. Card. Fail."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/nrd3864","article-title":"MicroRNA therapeutics for cardiovascular disease: Opportunities and obstacles","volume":"11","author":"Olson","year":"2012","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1161\/CIRCULATIONAHA.118.035831","article-title":"Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis: Analysis of the APOLLO Study","volume":"139","author":"Solomon","year":"2019","journal-title":"Circulation"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis","volume":"379","author":"Adams","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1080\/13506129.2022.2091985","article-title":"Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: A randomized clinical trial","volume":"30","author":"Adams","year":"2023","journal-title":"Amyloid"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1161\/CIRCULATIONAHA.118.037934","article-title":"Genetic Variants Associated With Cancer Therapy\u2013Induced Cardiomyopathy","volume":"140","author":"Kim","year":"2019","journal-title":"Circulation"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1056\/NEJMoa1716793","article-title":"Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis","volume":"379","author":"Benson","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/eurheartj\/ehaa898","article-title":"Novel antisense therapy targeting microRNA-132 in patients with heart failure: Results of a first-in-human Phase 1b randomized, double-blind, placebo-controlled study","volume":"42","author":"Hauke","year":"2021","journal-title":"Eur. Heart J."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1161\/CIRCRESAHA.116.309589","article-title":"Single-Dose Intracardiac Injection of Pro-Regenerative MicroRNAs Improves Cardiac Function After Myocardial Infarction","volume":"120","author":"Lesizza","year":"2017","journal-title":"Circ. Res."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1038\/s41467-019-09530-1","article-title":"Therapeutic role of miR-19a\/19b in cardiac regeneration and protection from myocardial infarction","volume":"10","author":"Gao","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1038\/s41467-025-57481-7","article-title":"AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models","volume":"16","author":"Greenwood","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.cardfail.2022.10.021","article-title":"Safety Profile Of The First Pediatric Cardiomyopathy Gene Therapy Trial: RP-A501 (AAV9:LAMP2B) For Danon Disease","volume":"29","author":"Rossano","year":"2023","journal-title":"J. Card. Fail."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1016\/j.ymthe.2022.07.003","article-title":"AAV capsid engineering identified two novel variants with improved in vivo tropism for cardiomyocytes","volume":"30","author":"Rode","year":"2022","journal-title":"Mol. Ther."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ymthe.2020.12.007","article-title":"Current Clinical Applications of In Vivo Gene Therapy with AAVs","volume":"29","author":"Mendell","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.omtm.2018.04.003","article-title":"Biocompatible, Purified VEGF-A mRNA Improves Cardiac Function after Intracardiac Injection 1 Week Post-myocardial Infarction in Swine","volume":"9","author":"Carlsson","year":"2018","journal-title":"Mol. Ther.\u2014Methods Clin. Dev."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.omtn.2018.08.021","article-title":"Ablation of a Single N-Glycosylation Site in Human FSTL 1 Induces Cardiomyocyte Proliferation and Cardiac Regeneration","volume":"13","author":"Magadum","year":"2018","journal-title":"Mol. Ther.\u2014Nucleic Acids"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ymthe.2022.11.017","article-title":"Direct intramyocardial injection of VEGF mRNA in patients undergoing coronary artery bypass grafting","volume":"31","author":"Anttila","year":"2023","journal-title":"Mol. Ther."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1126\/science.abm0594","article-title":"CAR T cells produced in vivo to treat cardiac injury","volume":"375","author":"Rurik","year":"2022","journal-title":"Science"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1161\/CIRCRESAHA.122.320496","article-title":"CRISPR Modeling and Correction of Cardiovascular Disease","volume":"130","author":"Liu","year":"2022","journal-title":"Circ. Res."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/s41576-018-0059-1","article-title":"Base editing: Precision chemistry on the genome and transcriptome of living cells","volume":"19","author":"Rees","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/nature17946","article-title":"Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage","volume":"533","author":"Komor","year":"2016","journal-title":"Nature"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"e003672","DOI":"10.1161\/CIRCGEN.121.003672","article-title":"Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant","volume":"16","author":"Hoorntje","year":"2023","journal-title":"Circ. Genomic Precis. Med."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1056\/NEJMoa2409134","article-title":"Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy","volume":"392","author":"Fontana","year":"2025","journal-title":"N. Engl. J. Med."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature11739","article-title":"Functional screening identifies miRNAs inducing cardiac regeneration","volume":"492","author":"Eulalio","year":"2012","journal-title":"Nature"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.jacbts.2021.07.012","article-title":"Translation of New and Emerging Therapies for Genetic Cardiomyopathies","volume":"7","author":"Helms","year":"2022","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/s43856-024-00450-w","article-title":"AAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy","volume":"4","author":"Wu","year":"2024","journal-title":"Commun. Med."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"e175164","DOI":"10.1172\/JCI175164","article-title":"CRISPR-Cas9 base editing of pathogenic CaMKII\u03b4 improves cardiac function in a humanized mouse model","volume":"134","author":"Lebek","year":"2024","journal-title":"J. Clin. Investig."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1056\/NEJMoa2107454","article-title":"CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis","volume":"385","author":"Gillmore","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/S0140-6736(16)00082-9","article-title":"Calcium upregulation by percutaneous administration of gene therapy in patients with cardiac disease (CUPID 2): A randomised, multinational, double-blind, placebo-controlled, phase 2b trial","volume":"387","author":"Greenberg","year":"2016","journal-title":"Lancet"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1001\/jamaneurol.2020.1484","article-title":"Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial","volume":"77","author":"Mendell","year":"2020","journal-title":"JAMA Neurol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/s41573-019-0012-9","article-title":"Adeno-associated virus vector as a platform for gene therapy delivery","volume":"18","author":"Wang","year":"2019","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1161\/CIRCIMAGING.112.000320","article-title":"Cardiac-Selective Expression of Extracellular Superoxide Dismutase After Systemic Injection of Adeno-Associated Virus 9 Protects the Heart Against Post\u2013Myocardial Infarction Left Ventricular Remodeling","volume":"6","author":"Konkalmatt","year":"2013","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1161\/CIRCULATIONAHA.111.022889","article-title":"Calcium Upregulation by Percutaneous Administration of Gene Therapy in Cardiac Disease (CUPID): A Phase 2 Trial of Intracoronary Gene Therapy of Sarcoplasmic Reticulum Ca2+-ATPase in Patients With Advanced Heart Failure","volume":"124","author":"Jessup","year":"2011","journal-title":"Circulation"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1093\/ehjqcco\/qcae109","article-title":"Diagnosis and management of dilated cardiomyopathy: A systematic review of clinical practice guidelines and recommendations","volume":"11","author":"Sorella","year":"2025","journal-title":"Eur. Heart J.\u2014Qual. Care Clin. Outcomes"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"3784","DOI":"10.1093\/eurheartj\/ehz908","article-title":"Dilated cardiomyopathy: So many cardiomyopathies!","volume":"41","author":"Sinagra","year":"2019","journal-title":"Eur. Heart J."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"102821","DOI":"10.1016\/j.jaccas.2024.102821","article-title":"Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy","volume":"29","author":"Ahmed","year":"2024","journal-title":"JACC Case Rep."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated Cardiomyopathy: Genetic Determinants and Mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ. Res."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.1016\/j.jacc.2019.10.011","article-title":"Precision Medicine in the Management of Dilated Cardiomyopathy","volume":"74","author":"Fatkin","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"e004301","DOI":"10.1161\/CIRCGEN.123.004301","article-title":"Imagenetics for Precision Medicine in Dilated Cardiomyopathy","volume":"17","author":"Antonopoulos","year":"2024","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"eade1633","DOI":"10.1126\/scitranslmed.ade1633","article-title":"Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy","volume":"14","author":"Nishiyama","year":"2022","journal-title":"Sci. Transl. Med."},{"key":"ref_144","doi-asserted-by":"crossref","unstructured":"Nishiyama, T. (2025). Prime Editing Corrects Multiple Mutations in the RSRSP Region of the RBM20 Gene Using a Single Prime Editing Guide RNA. JMA J., 8.","DOI":"10.31662\/jmaj.2025-0004"},{"key":"ref_145","doi-asserted-by":"crossref","unstructured":"Wang, Z., Wu, J., Lv, Z., Liang, P., Li, Q., Li, Y., and Guo, Y. (J. Adv. Res., 2025). LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy, J. Adv. Res., in press.","DOI":"10.1016\/j.jare.2025.01.001"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1056\/NEJMoa2025797","article-title":"Cardiac Myosin Activation with Omecamtiv Mecarbil in Systolic Heart Failure","volume":"384","author":"Teerlink","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_147","doi-asserted-by":"crossref","unstructured":"Miao, M., Yang, Y., and Dai, H. (2024). Current research status and future prospects of NLRP3 inflammasome in cardiovascular diseases: A bibliometric and visualization analysis. Front. Cardiovasc. Med., 11.","DOI":"10.3389\/fcvm.2024.1407721"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/S0140-6736(20)31792-X","article-title":"Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): A randomised, double-blind, placebo-controlled, phase 3 trial","volume":"396","author":"Olivotto","year":"2020","journal-title":"Lancet"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.jacc.2021.12.002","article-title":"Diagnosis and Evaluation of Hypertrophic Cardiomyopathy","volume":"79","author":"Maron","year":"2022","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_150","first-page":"356","article-title":"Position paper ANMCO: Cardiomiopatia ipertrofica: Dalla diagnosi al trattamento","volume":"26","author":"Chimenti","year":"2025","journal-title":"G. Ital. Cardiol."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1007\/s00424-018-2226-9","article-title":"Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy","volume":"471","author":"Glazier","year":"2019","journal-title":"Pfl\u00fcg. Arch. Eur. J. Physiol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/j.cardfail.2023.11.010","article-title":"MyPeak-1: A Phase 1b Study to Evaluate Safety and Efficacy of TN-201, an Adeno-Associated Virus Serotype 9 (AAV9) Investigational Gene Therapy, in Adults with MYBPC3-Associated Hypertrophic Cardiomyopathy (HCM)","volume":"30","author":"Haroldson","year":"2024","journal-title":"J. Card. Fail."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"5515","DOI":"10.1038\/ncomms6515","article-title":"Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice","volume":"5","author":"Mearini","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1126\/science.1236921","article-title":"Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy","volume":"342","author":"Jiang","year":"2013","journal-title":"Science"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1002\/emmm.201202168","article-title":"Rescue of cardiomyopathy through U7sn RNA -mediated exon skipping in Mybpc3-targeted knock-in mice","volume":"5","author":"Reischmann","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/nature23305","article-title":"Correction of a pathogenic gene mutation in human embryos","volume":"548","author":"Ma","year":"2017","journal-title":"Nature"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.ekir.2019.11.013","article-title":"Current and Investigational Therapeutics for Fabry Disease","volume":"5","author":"Felis","year":"2020","journal-title":"Kidney Int. Rep."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"107306","DOI":"10.1016\/j.ymgme.2022.107306","article-title":"Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1\/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up","volume":"138","author":"Schiffmann","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_159","unstructured":"(2025, June 01). Dose-Ranging Study of ST-920, an AAV2\/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR), Available online: https:\/\/www.clinicaltrials.gov\/study\/NCT04046224."},{"key":"ref_160","unstructured":"(2025, June 01). Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease, Available online: https:\/\/clinicaltrials.gov\/study\/NCT03454893?cond=Fabry%20Disease&intr=AVR-RD-01&rank=1."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/7\/801\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:04:29Z","timestamp":1760033069000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/7\/801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,4]]},"references-count":160,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["genes16070801"],"URL":"https:\/\/doi.org\/10.3390\/genes16070801","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,4]]}}}