Pugliese Luca, Luciano Alessandra, Chiocchi Marcello
Department of Medical Surgical Sciences and Translational Medicine, University of Rome La Sapienza, Radiology Unit, Sant'Andrea University Hospital, 00189 Rome, Italy.
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Unit of Diagnostic Imaging, Policlinico Tor Vergata, 00133 Rome, Italy.
J Cardiovasc Dev Dis. 2025 May 15;12(5):189. doi: 10.3390/jcdd12050189.
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused by either sarcomere protein or other gene mutations. It is a complex and highly heterogeneous disorder, with phenotypes ranging from asymptomatic to severe disease, characterized by asymmetric left ventricular (LV) hypertrophy unexplained by loading conditions, which is also associated with myocardial fiber disarray, and preserved or increased ejection fraction without LV dilation. Comprehensive personal and family history, physical examination, and ECG testing raise suspicion of HCM, and echocardiogram represents the first-line imaging modality for confirming a diagnosis. Moreover, contrast-enhanced cardiac magnetic resonance (CMR) imaging has increasingly emerged as a fundamental diagnostic and prognostic tool in HCM management. This article reviews the role of CMR in HCM identification and differentiation from phenotypic mimics, characterization of HCM phenotypes, monitoring of disease progression, evaluation of pre- and post-septal reduction treatments, and selection of candidates for implantable cardioverter-defibrillator. By providing information on cardiac morphology and function and tissue characterization, CMR is particularly helpful in the quantification of myocardial wall thickness, the detection of hypertrophy in areas blind to echocardiogram, subtle morphologic features in the absence of LV hypertrophy, myocardial fibrosis, and apical aneurysm, the evaluation of LV outflow tract obstruction, and the assessment of LV function in end-stage dilated HCM.
肥厚型心肌病（HCM）是最常见的遗传性心肌病，由肌节蛋白或其他基因突变引起。它是一种复杂且高度异质性的疾病，表型从无症状到严重疾病不等，其特征是在无负荷条件可解释的情况下出现不对称左心室（LV）肥厚，还伴有心肌纤维紊乱，以及射血分数保留或增加且左心室无扩张。全面的个人和家族病史、体格检查及心电图检测可引发对HCM的怀疑，而超声心动图是确诊的一线影像学检查方法。此外，对比增强心脏磁共振（CMR）成像在HCM管理中已日益成为一种重要的诊断和预后工具。本文综述了CMR在HCM识别、与表型相似疾病的鉴别、HCM表型特征描述、疾病进展监测、室间隔减容治疗前后评估以及植入式心律转复除颤器候选者选择中的作用。通过提供有关心脏形态、功能及组织特征的信息，CMR在心肌壁厚度定量、超声心动图难以观察区域的肥厚检测、无左心室肥厚时的细微形态特征、心肌纤维化及心尖部动脉瘤的检测、左心室流出道梗阻评估以及终末期扩张型HCM的左心室功能评估方面特别有帮助。
