Garoia Federico, Capovilla Teresa Maria, Reginato Anna, Rubbo Filippo Maria, Paldino Alessia, Pio Loco Detto Gava Carola, Bassetto Giulia, Dal Ferro Matteo, Merlo Marco, Sinagra Gianfranco
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Cardiovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.
J Cardiovasc Med (Hagerstown). 2025 Jul 1;26(7):386-397. doi: 10.2459/JCM.0000000000001750. Epub 2025 Jun 20.
Cardiomyopathies are a heterogeneous group of cardiac disorders with significant morbidity and mortality that often manifest as heart failure or sudden cardiac death. Although these conditions can be influenced by environmental factors, genetic causes play a critical role, with both Mendelian and non-Mendelian inheritance patterns contributing to their development. Advances in genetic testing have transformed clinical practice, offering new opportunities for diagnostic and prognostic characterization of cardiomyopathies, and supporting personalized interventions based on genetic profiles. This review explores the diagnostic utility of genetic testing for some specific cardiomyopathies and the complex prognostic insights it provides, especially for assessing arrhythmic risk and guiding implantable cardioverter defibrillator (ICD) implantation in primary prevention. In addition, the review highlights the emerging potential of gene-targeted therapies, which aim to improve outcomes for patients with variants in specific genes. As inherited cardiomyopathies often exhibit familial patterns, genetic testing is also crucial in family screening and management, enabling tailored monitoring and care. Recognizing the challenges posed by phenotypic variability and the interplay of genetic, comorbid, and lifestyle factors, this review emphasizes the need for a deeper understanding of these complexities to optimize precision medicine approaches in the care of inherited cardiomyopathies.
心肌病是一组异质性心脏疾病，具有较高的发病率和死亡率，常表现为心力衰竭或心源性猝死。尽管这些疾病可受环境因素影响，但遗传因素起着关键作用，孟德尔遗传和非孟德尔遗传模式均参与其发病过程。基因检测技术的进步改变了临床实践，为心肌病的诊断和预后特征分析提供了新机遇，并支持基于基因图谱的个性化干预。本综述探讨了基因检测对某些特定心肌病的诊断效用及其提供的复杂预后见解，特别是在评估心律失常风险和指导一级预防中植入式心律转复除颤器（ICD）植入方面。此外，该综述强调了基因靶向治疗的新兴潜力，其旨在改善特定基因变异患者的治疗结局。由于遗传性心肌病常呈现家族聚集性，基因检测在家族筛查和管理中也至关重要，可实现针对性的监测和护理。认识到表型变异性以及遗传、合并症和生活方式因素相互作用所带来的挑战，本综述强调需要更深入地理解这些复杂性，以优化遗传性心肌病精准医疗方法。
