Gasior Tomasz
Collegium Medicum-Faculty of Medicine, WSB University, 41-300 Dabrowa Gornicza, Poland.
J Clin Med. 2024 Nov 26;13(23):7166. doi: 10.3390/jcm13237166.
Cardiomyopathies represent a diverse group of heart muscle diseases marked by structural and functional abnormalities that are not primarily caused by coronary artery disease. Recent advances in non-invasive imaging techniques, such as echocardiography, cardiac magnetic resonance, and computed tomography, have transformed diagnostic accuracy and risk stratification, reemphasizing the role of cardiac imaging in diagnosis, phenotyping, and management of these conditions. Genetic testing complements imaging by clarifying inheritance patterns, assessing sudden cardiac death risk, and informing therapeutic choices. Integrating imaging data, such as left ventricular wall thickness, fibrosis, and apical aneurysms, with genetic findings enhances decision-making for implantable cardioverter-defibrillators in high-risk patients. Emerging technologies like artificial intelligence, strain imaging, and molecular imaging, alongside genetic testing, hold the promise of further refining diagnosis and personalized treatment approaches. This article summarizes the current state and future perspectives of cardiac imaging and genetic testing for diagnosis and risk stratification in cardiomyopathies, offering practical insights for patients' management.
心肌病是一组多样的心肌疾病，其特征为结构和功能异常，且并非主要由冠状动脉疾病引起。超声心动图、心脏磁共振成像和计算机断层扫描等非侵入性成像技术的最新进展改变了诊断准确性和风险分层，再次强调了心脏成像在这些疾病的诊断、表型分析和管理中的作用。基因检测通过明确遗传模式、评估心源性猝死风险和指导治疗选择来补充成像检查。将左心室壁厚度、纤维化和心尖动脉瘤等成像数据与基因检测结果相结合，可增强高危患者植入式心律转复除颤器的决策制定。人工智能、应变成像和分子成像等新兴技术与基因检测一起，有望进一步优化诊断和个性化治疗方法。本文总结了心肌病诊断和风险分层中心脏成像和基因检测的现状及未来展望，为患者管理提供实用见解。
