过度缩性心肌病变性是一种心肌病变性
Barry J Maron1, Martin S Maron
1The Hypertrophic Cardiomyopathy Centers of Minneapolis Heart Institute Foundation, Minneapolis, MN, USA.
Lancet (London, England)
|August 10, 2012
概括
增高性心肌病变 (HCM) 是一种常见的遗传性心脏病,影响500人中的1人. 尽管存在突然死亡等风险,但有效的治疗方法现在改善了许多被诊断的个体的生活质量和寿命.
科学领域:
- 心血管医学 心血管医学
- 遗传学 遗传学 是一个
- 遗传性心血管疾病 遗传性心血管疾病
背景情况:
- 增高性心肌病变 (HCM) 是一种普遍的遗传性心血管疾病,每500个人中就有1人受到影响.
- 它源于编码心脏瘤蛋白质的基因中的1400多个突变.
- HCM是导致年轻人,包括运动员突然心脏病死亡的主要原因.
研究的目的:
- 审查当前对高伤心肌病的理解.
- 突出诊断标准和可用的治疗策略.
- 讨论过去50年来海管理的转型.
主要方法:
- 临床诊断依赖于通过心声学或心血管核磁共振 (MRI) 识别无法解释的左心室缩.
- 治疗策略包括植入式除器,药物,手术肌切除术,酒精隔膜切除和心房的管理.
- 基因检测可以识别突变,包括在没有明显增大症的患者中.
主要成果:
- 尽管它具有潜在的严重程度,但许多患有HCM的人仍然未被诊断,并且可能不会经历显著减少的预期寿命.
- 有效的治疗方法可用于预防突然死亡,控制心力衰竭症状,降低中风风险.
- 一组患有遗传突变但没有左心室缩的患者提供了进一步研究的领域.
结论:
- 超性心肌病已经从一种罕见的,无法治疗的疾病演变为一种常见的遗传疾病,其结果是可以控制的.
- 目前的管理策略为改善生活质量和延长寿命提供了现实的前景.
- 需要继续进行研究,特别是对于具有遗传突变但没有左心室缩的患者.
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