The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.
The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.
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DOI：
10.1186/1532-429x-14-17
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发表时间：
2012-02-20
期刊：
影响因子：
--
通讯作者：
Bluemke DA
中科院分区：
文献类型：
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作者：
Noureldin RA;Liu S;Nacif MS;Judge DP;Halushka MK;Abraham TP;Ho C;Bluemke DA
肥厚型心肌病(HCM)是最常见的心脏遗传病。肥厚性心肌病的临床表现广泛，从无症状的突变携带者到以心源性猝死为首发症状。已发现1000多个突变，典型的突变发生在编码肌瘤蛋白的基因上。非侵入性成像是肥厚性心肌病诊断的核心，心血管磁共振(CMR)越来越多地被用来描述与肥厚性心肌病相关的形态、功能和组织异常。本综述的目的是提供与理解肥厚性心肌病诊断相关的临床、病理和影像特征的概述。综述了CMR可识别的疾病的早期和显性表型表达。舒张期功能障碍可能是疾病的早期标志，在左心室肥厚(LVH)发展之前就存在于突变携带者中。大约60%的肥厚性心肌病左室肥厚患者存在CMR晚期的Gd增强，这可能为肥厚性心肌病的风险分层提供新的信息。很可能，将遗传进步与HCM的增强表型特征与新的CMR技术相结合将极大地提高我们对这种复杂疾病的理解。
Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart. HCM is characterized by a wide range of clinical expression, ranging from asymptomatic mutation carriers to sudden cardiac death as the first manifestation of the disease. Over 1000 mutations have been identified, classically in genes encoding sarcomeric proteins. Noninvasive imaging is central to the diagnosis of HCM and cardiovascular magnetic resonance (CMR) is increasingly used to characterize morphologic, functional and tissue abnormalities associated with HCM. The purpose of this review is to provide an overview of the clinical, pathological and imaging features relevant to understanding the diagnosis of HCM. The early and overt phenotypic expression of disease that may be identified by CMR is reviewed. Diastolic dysfunction may be an early marker of the disease, present in mutation carriers prior to the development of left ventricular hypertrophy (LVH). Late gadolinium enhancement by CMR is present in approximately 60% of HCM patients with LVH and may provide novel information regarding risk stratification in HCM. It is likely that integrating genetic advances with enhanced phenotypic characterization of HCM with novel CMR techniques will importantly improve our understanding of this complex disease.