Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management
Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management
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DOI：
10.1148/rg.2016150137
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发表时间：
2016-03-01
期刊：
影响因子：
5.5
通讯作者：
Murillo, Horacio
中科院分区：
文献类型：
--
作者：
Baxi, Ameya Jagdish;Restrepo, Carlos S.;Murillo, Horacio
肥厚型心肌病（HCM）是一组与肌节基因突变相关的异质性疾病，表现为常染色体显性孟德尔遗传模式的异质性表型。该疾病的特征在于不同的表型表达和可变的自然进展，其范围可以从呼吸困难和/或晕厥到心脏性猝死。它在所有种族群体中都有发现，并且在没有其他全身性或心脏疾病的情况下与左心室肥大相关。HCM的管理是基于对基本形态学，病理生理学和临床过程的透彻理解。HCM的影像学表现反映了可变的表现性和异质性，即使在尚未发现特定突变的情况下，也具有额外的诊断优势，从影像学获得的诊断信息因HCM表型表现的特定阶段而异，包括肥大前、肥大和后期的不良重塑到明显心力衰竭的耗竭阶段。然而，无论是细微的还是明显的，这些影像学表现都成为HCM患者诊断、管理和随访的关键组成部分。尽管HCM的诊断传统上依赖于临床评估和经胸超声心动图，但最近的研究表明，多探测器计算机断层扫描（CT），特别是心脏磁共振（MR）成像在诊断、表型分化、治疗计划和诊断中的应用越来越多。在这篇文章中，我们提供了一个概述的遗传学，病理生理学和HCM的临床表现，在MR成像和CT的影像学表现谱及其在诊断，危险分层和治疗的贡献。(C)RSNA，2016
Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of diseases related to sarcomere gene mutations exhibiting heterogeneous phenotypes with an autosomal dominant mendelian pattern of inheritance. The disorder is characterized by diverse phenotypic expressions and variable natural progression, which may range from dyspnea and/or syncope to sudden cardiac death. It is found across all racial groups and is associated with left ventricular hypertrophy in the absence of another systemic or cardiac disease. The management of HCM is based on a thorough understanding of the underlying morphology, pathophysiology, and clinical course. Imaging findings of HCM mirror the variable expressivity and penetrance heterogeneity, with the added advantage of diagnosis even in cases where a specific mutation may not yet be found. The diagnostic information obtained from imaging varies depending on the specific stage of HCM-phenotype manifestation, including the prehypertrophic, hypertrophic, and later stages of adverse remodeling into the burned-out phase of overt heart failure. However, subtle or obvious, these imaging findings become critical components in diagnosis, management, and follow-up of HCM patients. Although diagnosis of HCM traditionally relies on clinical assessment and transthoracic echocardiography, recent studies have demonstrated increased utility of multidetector computed tomography (CT) and particularly cardiac magnetic resonance (MR) imaging in diagnosis, phenotype differentiation, therapeutic planning, and prognostication. In this article, we provide an overview of the genetics, pathophysiology, and clinical manifestations of HCM, with the spectrum of imaging findings at MR imaging and CT and their contribution in diagnosis, risk stratification, and therapy. (C) RSNA, 2016