文献清单：心脏遗传最新进展
文献清单：心脏遗传最新进展 | MDPI Cardiogenetics
期刊名： Cardiogenetics
期刊主页： https://www.mdpi.com/journal/cardiogenetics
Cardiogenetics 是全科医生、心脏病专家和遗传学家不可或缺的重要学术资源。如今，外显子组测序、非编码DNA、生物信息学、microRNA、长链非编码RNA及表观遗传学等术语已融入我们的日常交流，充分说明组建“心脏遗传学团队”的必要性——该团队需与临床医生紧密协作，将实验室研究成果切实应用于临床实践。本刊拥有一支由领域内权威且活跃的临床医生和科学家组成的强大编辑 委员 会，致力于搭建实验室与临床之间的桥梁。我们诚邀广大遗传学研究者、全科医生及心脏病专家，关注并阅读Cardiogenetics近两年发表的高影响力论文。
1. Dietary Approach in Familial Hypercholesterolemia
家族性高胆固醇血症的膳食干预方法
https://www.mdpi.com/2035-8148/15/1/1
Popiolek-Kalisz, J.; Salamon, K.; Mazur, M.; Mikolajczyk, K.; Kalisz, G. Dietary Approach in Familial Hypercholesterolemia. Cardiogenetics 2025 , 15 , 1.
2. Polygenic Risk Scores and Coronary Artery Disease
多基因风险评分与冠状动脉疾病
https://www.mdpi.com/2035-8148/15/4/27
Ansari, S.; Lakshmanan, S.; Budoff, M.J. Polygenic Risk Scores and Coronary Artery Disease. Cardiogenetics 2025 , 15 , 27.
3. Cardiomyopathies and Arrythmias in Neuromuscular Diseases
神经肌肉疾病中的心肌病与心律失常
https://www.mdpi.com/2035-8148/15/1/7
Sgarito, G.; Volpe, C.; Bardari, S.; Calvanese, R.; China, P.; Mascioli, G.; Nesti, M.; Pignalberi, C.; Cipriani, M.; Zecchin, M. Cardiomyopathies and Arrythmias in Neuromuscular Diseases. Cardiogenetics 2025 , 15 , 7.
4. Desmosomal Versus Non-Desmosomal Arrhythmogenic Cardiomyopathies: A State-of-the-Art Review
桥粒性与非桥粒性致心律失常性心肌病：最新综述
https://www.mdpi.com/2035-8148/15/3/22
Galanti, K.; Iezzi, L.; Rizzuto, M.L.; Falco, D.; Negri, G.; Pham, H.N.; Mansour, D.; Giansante, R.; Stuppia, L.; Mazzocchetti, L.; et al. Desmosomal Versus Non-Desmosomal Arrhythmogenic Cardiomyopathies: A State-of-the-Art Review. Cardiogenetics 2025 , 15 , 22.
5. Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review
SYNE基因变异相关的心血管受累：病例系列与叙述性综述
https://www.mdpi.com/2035-8148/15/1/2
Ravera, F.; Dusi, V.; Bocchino, P.P.; Gobello, G.; Giannino, G.; Melis, D.; Brach Del Prever, G.M.; Angelini, F.; Saglietto, A.; Giustetto, C.; et al. Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review. Cardiogenetics 2025 , 15 , 2.
6. Genotype–Phenotype Correlation of EVC Variants in Ellis-Van Creveld Syndrome: A Systematic Review and Case Report
Ellis-van Creveld综合征中EVC基因变异的基因型–表型相关性：系统综述与病例报告
https://www.mdpi.com/2035-8148/15/2/11
Rodriguez-Cambranis, S.; Castillo-Espinola, A.-M.; Fuentelzas-Rosado, C.-D.; Salazar-Sansores, P.; Nuñez-Solis, C.-G.; Laviada-Molina, H.-A.; Zetina-Solorzano, A.-K.; Campos-Garcia, F.-J. Genotype–Phenotype Correlation of EVC Variants in Ellis-Van Creveld Syndrome: A Systematic Review and Case Report. Cardiogenetics 2025 , 15 , 11.
7. From Genetics to Phenotype: Understanding the Diverse Manifestations of Cardiovascular Genetic Diseases in Pediatric Populations
从遗传学到表型：理解儿童人群中心血管遗传病的多样表现
https://www.mdpi.com/2035-8148/15/4/29
Gutmann, J.L.; Spister, A.; Baticic, L. From Genetics to Phenotype: Understanding the Diverse Manifestations of Cardiovascular Genetic Diseases in Pediatric Populations. Cardiogenetics 2025 , 15 , 29.
8. Contribution of Rare and Common APOE Variants to Familial Hypercholesterolemia in Spanish Cohort
罕见与常见APOE基因变异对西班牙人群家族性高胆固醇血症的贡献
https://www.mdpi.com/2035-8148/15/1/3
Vega-Prado, L.M.; Vázquez-Coto, D.; Villazón, F.; Suárez-Gutiérrez, L.; Martínez-Faedo, C.; Menéndez-Torre, E.; Riestra, M.; González-Martínez, S.; Gutiérrez-Buey, G.; García-Lago, C.; et al. Contribution of Rare and Common APOE Variants to Familial Hypercholesterolemia in Spanish Cohort. Cardiogenetics 2025 , 15 , 3.
9. Genetic Implications of Fatty Tissue for the Development of Ventricular Arrhythmias
脂肪组织对室性心律失常发生的遗传学影响
https://www.mdpi.com/2035-8148/15/1/8
Sirbu Prisecaru, R.; Purcar, O.; Manitiu, I. Genetic Implications of Fatty Tissue for the Development of Ventricular Arrhythmias. Cardiogenetics 2025 , 15 , 8.
10. NNC1 Gene Mutation in Ebstein’s Anomaly and Left Ventricular Hypertrabeculation: A Case Report of a New Causative Mutation?
TNNC1基因突变与Ebstein畸形及左心室过度小梁化：一例新致病突变病例报告？
https://www.mdpi.com/2035-8148/15/3/24
Raso, I.; Chillemi, C.; Prontera, G.; Laoreti, A.; Cattaneo, E.; Calcaterra, V.; Zuccotti, G.V.; Mannarino, S. TNNC1 Gene Mutation in Ebstein’s Anomaly and Left Ventricular Hypertrabeculation: A Case Report of a New Causative Mutation? Cardiogenetics 2025 , 15 , 24.
11. Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction
心肌梗死后心脏康复项目中家族性高胆固醇血症的筛查
https://www.mdpi.com/2035-8148/15/1/6
Bertolín-Boronat, C.; Marcos-Garcés, V.; Merenciano-González, H.; Martínez Mas, M.L.; Climent Alberola, J.I.; Perez, N.; López Bueno, L.; Esteban Argente, M.C.; Valls Reig, M.; Arizón Benito, A.; et al. Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction. Cardiogenetics 2025 , 15 , 6.
12. Cardiac Involvement in Patients with MELAS-Related mtDNA 3243A>G Variant
MELAS相关线粒体DNA 3243A>G变异患者的心脏受累
https://www.mdpi.com/2035-8148/15/2/16
Vuorinen, A.-M.; Lehmonen, L.; Auranen, M.; Weckström, S.; Kivistö, S.; Holmström, M.; Heliö, T. Cardiac Involvement in Patients with MELAS-Related mtDNA 3243A>G Variant. Cardiogenetics 2025 , 15 , 16.
13. Systematic Review of Pharmacogenetics of Immunosuppressants in Heart Transplantation
心脏移植中免疫抑制剂的药物遗传学：系统综述
https://www.mdpi.com/2035-8148/15/2/18
Megías-Vericat, J.E.; Palanques-Pastor, T.; Fernández-Sánchez, M.; Guerrero-Hurtado, E.; Gil-Candel, M.; Solana-Altabella, A.; Ballesta-López, O.; Centelles-Oria, M.; García-Pellicer, J.; Poveda-Andrés, J.L. Systematic Review of Pharmacogenetics of Immunosuppressants in Heart Transplantation. Cardiogenetics 2025 , 15 , 18.
14. How to Enhance Diagnosis in Fabry Disease: The Power of Information
如何提高法布里病的诊断水平：信息的力量
https://www.mdpi.com/2035-8148/15/3/21
Meucci, M.C.; Lillo, R.; Calcagnino, M.; Tocci, G.; Agricola, E.; Biondi, F.; Di Brango, C.; Guido, V.; Parisi, V.; Giordana, F.; et al. How to Enhance Diagnosis in Fabry Disease: The Power of Information. Cardiogenetics 2025 , 15 , 21.
15. Revisiting the Link Between Keratoconus and Mitral Valve Prolapse
重新审视圆锥角膜与二尖瓣脱垂之间的关联
https://www.mdpi.com/2035-8148/15/1/4
Five, C.K.; Hasselberg, N.E.; Bjerkreim, H.; Aaserud, L.T.; Castrini, A.I.; Bugge, C.; Aabel, E.W.; Helle-Valle, T.; Dalen, H.; Kristianslund, O.; et al. Revisiting the Link Between Keratoconus and Mitral Valve Prolapse. Cardiogenetics 2025 , 15 , 4.
16. MicroRNA and DNA Methylation Adaptation Mechanism to Endurance Training in Cardiovascular Disease: A Systematic Review
耐力训练在心血管疾病中的microRNA与DNA甲基化适应机制：系统综述
https://www.mdpi.com/2035-8148/15/4/28
Delhez, J.; Ougier, J.; de Araujo, F.X.; de Abreu, R.M.; Corbellini, C. MicroRNA and DNA Methylation Adaptation Mechanism to Endurance Training in Cardiovascular Disease: A Systematic Review. Cardiogenetics 2025 , 15 , 28.
17. Integrating Genetic, Clinical, and Histopathological Data for Definitive Diagnosis of PRKAG2-Related Disease
整合遗传学、临床与组织病理学数据以明确诊断PRKAG2相关疾病
https://www.mdpi.com/2035-8148/15/4/30
Caiazza, M.; Monda, E.; Loffredo, F.; Bussani, R.; Fico, V.; Bobbio, E.; Cirillo, C.; Murredda, A.; Viscovo, I.; Scatteia, A.; et al. Integrating Genetic, Clinical, and Histopathological Data for Definitive Diagnosis of PRKAG2-Related Disease. Cardiogenetics 2025 , 15 , 30.
期刊介绍
主编：Dr. Giuseppe Limongelli
Cardiogenetics 期刊创刊于2011年，是一个国际性、经同行评审的开放获取期刊，为心脏遗传学各领域（涵盖临床、分子、细胞及药理学层面）的相关研究提供了一个高水平的交流平台。投稿内容应侧重于心血管医学与遗传学的交叉领域。论文篇幅不设上限，但所有研究均须提供详尽的方法学细节，以确保结果的可重复性。
2025 Impact Factor：1.1
2025 CiteScore：1.4
Time to First Decision：26 Days
Acceptance to Publication：10 Days
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主题：//www|心脏病专家和遗传学家