在非缺血性扩张性心肌病中基因型发现的预后影响:一个网络元分析
Vasileios Anastasiou1, Andreas S Papazoglou2, Thomas Gossios1
11st Department of Cardiology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
European journal of heart failure
|July 30, 2024
概括
遗传背景显著影响扩张性心肌病 (DCM) 的结果. 病原体变异,特别是LMNA和desmosomal基因,增加不良事件,突出显示DCM风险分层中需要进行遗传测试.
科学领域:
- 心血管遗传学 心血管遗传学
- 分子心脏病学分子心脏病学
- 遗传流行病学遗传流行病学
背景情况:
- 非缺血性扩张性心肌病 (DCM) 有不同的遗传基础.
- 不同基因变异在DCM的预后影响尚未完全阐明.
- 关于与DCM结果的遗传关联的现有证据往往是矛盾的.
研究的目的:
- 综合有关DCM中各种遗传组的长期结果的数据.
- 为了比较不同DCM相关基因变异中不良事件的相对风险.
- 澄清DCM中遗传基质的预后意义.
主要方法:
- 对电子数据库进行系统的文献搜索,用于预后研究.
- 包括报告致病性/可能致病性 (P/LP) 变异,TTNtv,LMNA和脱体基因的研究.
- 对结局的元分析,包括复合不良事件 (CAE),恶性腹腔失常事件 (MVAE) 和心力衰竭事件 (HFE).
主要成果:
- 与基因型阴性个体相比,患有P/LP变异的患者对CAE,MVAE和HFEs的风险明显更高.
- 截断型变体 (TTNtv) 与CAE增加有关,但与MVAE或HFEs无关.
- LMNA和脱体基因变异为CAE,MVAE和HFE带来更高的风险;LMNA变异比TTNtv更具有害影响.
结论:
- 基因基底在DCM导致不同的自然历史和预后.
- 基因检测可以完善DCM患者的风险分层.
- 建议根据遗传发现量身定制治疗策略,以改善DCM管理.
相关概念视频
Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Cardiomyopathy II: Dilated Cardiomyopathy
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy IV: Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Cardiomyopathy V: Interprofessional Care
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...


