儿童和青少年的性别差异 患有多变性心肌病变的儿童和青少年
Gabrielle Norrish1, Kimberley Hall2, Ella Field3
1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom; Department of Cardiology, Institute of Cardiovascular Sciences University College London, London, United Kingdom.
JACC. Advances
|July 6, 2025
概括
在儿童心肌缩性心肌病 (HCM) 中,青少年女性表现出更多的心力衰竭症状和扩张性衰竭. 然而,死亡率或移植等总体结果在童年和年轻成年期没有性别差异.
科学领域:
- 儿科 儿科 儿科
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
背景情况:
- 已知成人多变性心肌病 (HCM) 的性别差异.
- 在童年开始的HCM中,类似的差异尚未得到充分证实.
- 这项研究解决了关于儿科HCM基于性别的变异的知识差距.
研究的目的:
- 研究生物性别对HCM儿童临床特征和结果的影响.
- 为了识别儿科超性心肌病的潜在的性别特异性模式.
主要方法:
- 一个国际小儿科患者队列 (≤16岁) 的回顾性分析,非综合征性HCM.
- 性别之间的基线特征和临床结果的比较.
- 主要结局:全因死亡率或心脏移植;次要结局:主要心律失常事件,心力衰竭事件.
主要成果:
- 青少年女性 (≥12岁) 更容易出现心力衰竭症状,与男性相比,左心房尺寸更大.
- 在青春期前患者 (<12岁) 中,在表型上没有观察到任何显著的性别差异.
- 在高或阻塞性疾病的程度上没有发现基于性别的变化.
结论:
- 患有儿科HCM的青少年女性呈现出更多的心力衰竭症状和心声回应功能障碍的心声图征兆.
- 尽管存在这些表型差异,但整体临床结果 (死亡率,移植,重大事件) 在童年和年轻成人时期的性别之间仍然可比.
- 需要进一步的研究,以阐明在儿科HCM中观察到的性别特异背后的机制.
相关概念视频
Cardiomyopathy III: Hypertrophic Cardiomyopathy
61
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...
61
Cardiomyopathy V: Interprofessional Care
38
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...
38
Cardiomyopathy IV: Restrictive Cardiomyopathy
39
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...
39
Cardiomyopathy II: Dilated Cardiomyopathy
30
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,...
30
Cardiomyopathy I: Introduction and Classification
71
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...
71
Heart Failure II: Pathophysiology
51
Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
51


