在炎症性心律失常性心肌病的基本和转化机制
Morgan Engel1, Emily A Shiel2, Stephen P Chelko3
1Department of Biomedical Sciences, Florida State University College of Medicine, Tallahassee, FL, United States of America; Department of Medicine, University of Central Florida College of Medicine, Orlando, FL, United States of America.
International journal of cardiology
|November 18, 2023
概括
节律失调性心肌病 (ACM) 是一种影响年轻人的遗传性心脏病. 研究探讨其原因,症状和潜在的治疗方法,以防止疾病的进展.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 节律失调性心肌病 (ACM) 是一种家族性,非缺血性心脏病,通常以自体主导模式遗传.
- 早期诊断是具有挑战性的,因为不完全的透率和可变的表达力,经常影响年轻人和运动员.
- 脱体基因中的致病变体,如DSC2和DSG2,涉及到自体逆向和自体主导遗传模式.
结论:
- 了解遗传学,炎症和心肌变化的复杂相互作用对于诊断和管理ACM至关重要.
- 进一步的研究和临床试验对于开发有效的预防ACM发病和进展的策略至关重要.
- 不断变化的ACM分类凸显了所有亚型的综合诊断和治疗方法的需要.
相关概念视频
Mechanism of Cardiac Arrhythmias
927
Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
927
Myocarditis I: Introduction
9
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
9
Cardiomyopathy I: Introduction and Classification
14
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...
14
Cardiomyopathy III: Hypertrophic Cardiomyopathy
15
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...
15
Cardiomyopathy IV: Restrictive Cardiomyopathy
12
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...
12
Pathophysiology of Cardiac Performance
674
Typical heart performance is influenced by heart rate, rhythm, myocardial contraction, and metabolism or blood flow. The cardiac muscle exhibits distinct electrophysiological features, including pacemaker activity and calcium channel control, which play a vital role in the heart's response to various drugs. The autonomic nervous system, comprising the sympathetic and parasympathetic branches, regulates heart rate. Sympathetic activation increases heart rate, while parasympathetic activation...
674


