McBenedict Billy, Hauwanga Wilhelmina N, Amadi Emmanuel S, Abraham Aaron A, Sivakumar Rithika, Okere Madeleine O, Yau Melvin Chun Yang, Balla Nematalla, Rahumathulla Thasneem, Alphonse Berley, Lima Pessôa Bruno
Neurosurgery, Fluminense Federal University, Niterói, BRA.
Family Medicine, Faculty of Medicine, Federal University of the State of Rio de Janeiro, Rio de Janeiro, BRA.
Cureus. 2024 Oct 7;16(10):e70993. doi: 10.7759/cureus.70993. eCollection 2024 Oct.
Hypertrophic cardiomyopathy (HCM) is a hereditary cardiovascular condition marked by heart muscle thickening, fibrosis, and myocardial disorders. It is often inherited in an autosomal dominant pattern. Symptoms include dyspnea, fatigue, palpitations, dizziness, syncope, and an increased risk of sudden cardiac death (SCD). Genetic studies have identified many asymptomatic carriers, indicating a higher prevalence of HCM. Advances in genetic testing (GT) and novel therapies, such as cardiac myosin inhibitors, have significantly impacted the diagnosis and management of HCM. This integrative review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and aimed to synthesize information regarding the impact of GT on the diagnosis and management of HCM patients. An electronic search was conducted on May 17, 2024, across PubMed, Embase, Scopus, Web of Science, and Cochrane databases, covering January 2020 to May 2024. Inclusion criteria were studies involving adult HCM patients who underwent GT and follow-up. Exclusion criteria included non-human studies, pediatric cases, non-HCM-related GT, non-peer-reviewed articles, systematic reviews, conference abstracts, and editorials. From 1,155 articles identified, 42 met the inclusion criteria after applying filters and removing duplicates. GT identified pathogenic variants in a significant proportion of HCM patients, enhancing diagnostic accuracy and management. Key mutations were found in myosin binding protein C3 and myosin heavy chain 7 genes. GT facilitated personalized management strategies, including risk stratification for SCD and family screening. Patients with identified mutations often required closer monitoring and tailored treatments. GT has revolutionized the diagnosis and management of HCM. The integration of genetic data has improved risk stratification, facilitated early intervention, and enhanced patient outcomes. Despite these advances, challenges remain in identifying genetic variants in some patients, emphasizing the need for continuous improvement in genetic panels and diagnostic methods. This review highlights the significant role of GT in optimizing HCM care through precise risk assessment and tailored treatment strategies.
肥厚型心肌病（HCM）是一种遗传性心血管疾病，其特征为心肌增厚、纤维化和心肌紊乱。它通常以常染色体显性模式遗传。症状包括呼吸困难、疲劳、心悸、头晕、晕厥以及心脏性猝死（SCD）风险增加。基因研究已识别出许多无症状携带者，这表明HCM的患病率更高。基因检测（GT）和新型疗法（如心肌肌球蛋白抑制剂）的进展对HCM的诊断和管理产生了重大影响。本整合性综述遵循系统评价和Meta分析的首选报告项目（PRISMA）指南，旨在综合有关GT对HCM患者诊断和管理影响的信息。于2024年5月17日在PubMed、Embase、Scopus、科学网和Cochrane数据库中进行了电子检索，涵盖2020年1月至2024年5月。纳入标准为涉及接受GT及随访的成年HCM患者的研究。排除标准包括非人类研究、儿科病例、与HCM无关的GT、非同行评审文章、系统评价、会议摘要和社论。从识别出的1155篇文章中，经过筛选和去除重复项后，有42篇符合纳入标准。GT在很大比例的HCM患者中识别出致病变异，提高了诊断准确性和管理水平。在肌球蛋白结合蛋白C3和肌球蛋白重链7基因中发现了关键突变。GT促进了个性化管理策略，包括SCD风险分层和家族筛查。识别出突变的患者通常需要更密切的监测和量身定制的治疗。GT彻底改变了HCM的诊断和管理。基因数据的整合改善了风险分层，促进了早期干预，并提高了患者的治疗效果。尽管有这些进展，但在一些患者中识别基因变异仍存在挑战，这强调了基因检测板和诊断方法持续改进的必要性。本综述强调了GT在通过精确风险评估和量身定制的治疗策略优化HCM护理方面的重要作用。
