基于证据的基因评估扩张性心肌病
Elizabeth Jordan1, Laiken Peterson1, Tomohiko Ai1
1Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Circulation
|May 5, 2021
概括
扩展性心肌病 (DCM) 遗传学是复杂的,已经确定了19个高证据的基因. 临床遗传测试小组通常包括证据有限的基因,需要仔细解释DCM变异.
科学领域:
- 遗传学
- 心脏病学
- 分子生物学
背景情况:
- 扩张性心肌病 (DCM) 具有复杂的遗传结构,涉及超过250个基因.
- 与多变性心肌病和心律失常性右室心肌病不同,DCM遗传与单一蛋白质类型无关.
- 进行了系统的治疗,以澄清DCM中的基因疾病关系.
研究的目的:
- 系统地除将基因与特异性疾病联系起来的证据.
- 根据它们与DCM的关联强度对基因进行分类.
- 评估DCM基因在临床遗传测试小组中的表现.
主要方法:
- 一个国际专家小组评估了与DCM单一性关系的证据.
- 临床基因组资源框架适应了基因疾病有效性.
- 对临床遗传测试小组的基因表现进行了评估.
主要成果:
- 在51个精选的基因中,有19个具有很高的证据 (12个是确定的/强烈的,7个是中度的).
- 这些19个基因只解释了DCM遗传原因的一小部分.
- 临床小组包括大多数高证据基因,但也有很多证据很少.
结论:
- 19个基因显示出与DCM相关的高度证据.
- 对于DCM的遗传结构仍有不完全理解.
- 临床实践应优先考虑具有高证据的DCM基因,并谨慎对具有有限证据的基因变异.
相关概念视频
Cardiomyopathy II: Dilated Cardiomyopathy
117
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,...
117
Cardiomyopathy III: Hypertrophic Cardiomyopathy
116
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...
116
Cardiomyopathy V: Interprofessional Care
99
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...
99
Cardiomyopathy I: Introduction and Classification
177
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...
177
Cardiomyopathy IV: Restrictive Cardiomyopathy
158
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...
158


