Impact of Genetic Testing on the Diagnosis, Management, and Prognosis of Hypertrophic Cardiomyopathy: A Systematic Review

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.