Soor G S, Luk A, Ahn E, Abraham J R, Woo A, Ralph-Edwards A, Butany J
Department of Pathology, Toronto General Hospital/University Health Network, Toronto, Canada.
J Clin Pathol. 2009 Mar;62(3):226-35. doi: 10.1136/jcp.2008.061655. Epub 2008 Oct 17.
The understanding of hypertrophic cardiomyopathy (HCM) has changed dramatically over the last few decades, and it is now understood to be caused by a mutation in one of several cardiac sarcomeric genes. Due to complications such as outflow tract obstruction, diastolic dysfunction, arrhythmias, stroke, infective endocarditis and sudden cardiac death, appropriate and early identification of these patients is imperative. This review attempts to summarise the current state of knowledge on HCM, and provide insight of the appropriate investigations needed in patients with HCM. It also outlines treatment strategies for these patients. Much remains unknown about this complex and intriguing disease, and continued research in identifying the genetic basis of HCM, along with the assessment of therapeutic strategies, will help to optimise patient care.
在过去几十年里,人们对肥厚型心肌病(HCM)的认识发生了巨大变化,现在已知它是由几种心脏肌节基因中的一种发生突变引起的。由于存在诸如流出道梗阻、舒张功能障碍、心律失常、中风、感染性心内膜炎和心源性猝死等并发症,对这些患者进行恰当且早期的识别至关重要。本综述试图总结目前关于HCM的知识现状,并深入探讨HCM患者所需的适当检查。它还概述了这些患者的治疗策略。关于这种复杂而引人入胜的疾病,仍有许多未知之处,持续开展关于确定HCM遗传基础的研究以及评估治疗策略,将有助于优化患者护理。