相关实验视频
Updated: May 6, 2026

08:09
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
Published on: June 7, 2018
9.2K
扩张性心肌病患者及其一级亲属中的酒精暴露:DCM精准医学研究
Javier Jimenez1,2, Hanyu Ni3,4, Stuart D Katz5
1Miami Cardiac and Vascular Institute, FL (J.J., S.C.).
Circulation. Genomic and precision medicine
|March 28, 2025
概括
这项研究在扩张性心肌病 (DCM) 患者和亲属中发现了频繁的酒精使用,但没有证据将累积的酒精暴露与DCM或修改后的遗传关联联系起来. 在这个队列中,酒精似乎不会导致DCM.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 毒理学 毒理学 毒理学
背景情况:
- 过度饮酒与扩张性心肌病 (DCM) 之间的联系尚未完全理解.
- 在DCM患者及其家属中,饮酒很常见.
研究的目的:
- 确定DCM患者和一级亲属 (FDR) 中酒精使用的流行率.
- 调查累积酒精暴露是否与DCM或部分DCM有关.
- 检查酒精消费是否会改变DCM与罕见遗传变异之间的关系.
主要方法:
- 使用酒精使用障碍识别测试-消费 (AUDIT-C) 和多年的饮酒评估酒精暴露.
- 将36个DCM基因中的罕见变异分类为致病性,可能致病性或意义不明的变异.
- 采用了通用的线性混合模型来分析FDR中的关联.
主要成果:
- 在1373个FDR中,DCM或部分DCM被发现在21.8%的FDR中.
- 酒精使用很普遍 (68%的试验者,70%的FDR),在AUDIT-C.中30-37%的得分是正面的.
- 在FDR中DCM/部分DCM与致病性/可能致病性变体 (OR 3.51) 相关,但与酒精暴露无关.
结论:
- 在DCM患者及其亲属中,经常使用酒精.
- 没有证据支持累积酒精暴露与DCM/部分DCM之间的直接关联.
- 酒精消费似乎没有改变DCM与相关遗传变异之间的联系.
相关概念视频
Coronary Artery Disease I: Introduction
1.8K
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.8K
Cardiomyopathy I: Introduction and Classification
837
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...
837
Cardiomyopathy II: Dilated Cardiomyopathy
802
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,...
802
Cardiomyopathy III: Hypertrophic Cardiomyopathy
812
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...
812
Cardiomyopathy IV: Restrictive Cardiomyopathy
968
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...
968
Cardiomyopathy V: Interprofessional Care
762
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...
762

