在法布里病中左心室缩的性别特异性预后值
Maria Chiara Meucci1, Rosa Lillo1,2, Annamaria Del Franco3
1Dipartimento di Scienze Cardiovascolari-CUORE, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
European heart journal. Cardiovascular Imaging
|September 25, 2025
概括
在法布里病 (FD) 中,左心室缩 (LVH) 的性别特定值至关重要. 与男性相比,患有FD的女性在较低的LVH测量时经历心血管事件,需要量身定制的预后评估.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 左心室缩 (LVH) 是法布里病 (FD) 的关键预后因素.
- 目前对FD中心脏参与的定义使用了最大壁厚的固定值,不论性别.
- 性别影响了法布里病的表型表现.
研究的目的:
- 调查LVH与法布里病心血管结果之间的相关性,以性别为特征的差异.
- 确定目前心脏参与的LVH值是否适用于FD的两性.
主要方法:
- 在347名FD患者 (57%为女性) 的多中心回顾性研究中.
- 收集了心声数据,包括左心室最大壁厚 (LVMWT).
- 对死亡率,心力衰竭住院,心律失常和缺血性中风的复合终点进行了评估,平均随访时间为53个月.
主要成果:
- 女性的LV壁厚度和质量明显低于男性,即使在对身体表面积 (BSA) 进行索引后也是如此.
- 8年后的复合事件率在男性 (33%) 比女性 (11%) 高.
- 确定了LVMWT的性别特异性预后值:女性>10毫米,男性>13毫米,两者都与不良结果独立相关.
结论:
- 对于法布里病中LVH的性别特异性预后值是必要的.
- 与男性相比,患有FD的女性在较低的LVMWT值时经历心血管事件.
- 目前对LVH的固定值可能低估了患有法布里病的女性心脏风险.
相关概念视频
Cardiomyopathy III: Hypertrophic Cardiomyopathy
411
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...
411
Mitral Stenosis II: Clinical features and Diagnostic Tests
220
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
220
Heart Failure II: Pathophysiology
730
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...
730


