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

Autor:	McBenedict B; Neurosurgery, Fluminense Federal University, Niterói, BRA., Hauwanga WN; Family Medicine, Faculty of Medicine, Federal University of the State of Rio de Janeiro, Rio de Janeiro, BRA., Amadi ES; Internal Medicine, Hallel Hospital Port Harcourt, Port Harcourt, NGA., Abraham AA; Internal Medicine, Christian Medical College Ludhiana, Ludhiana, IND.; Neurosurgery, Fluminense Federal University, Niterói, BRA., Sivakumar R; College of Medicine, Government Medical College, Omandurar Government Estate, Chennai, IND., Okere MO; Internal Medicine, University of Port Harcourt Teaching Hospital, Port Harcourt, NGA., Yau MCY; College of Medicine, Monash University Malaysia, Subang Jaya, MYS., Balla N; Internal Medicine, National Ribat University, Doha, QAT., Rahumathulla T; Medicine and Surgery, Tbilisi State Medical University, Tbilisi, GEO., Alphonse B; Internal Medicine, University Notre Dame of Haiti, Port-au-Prince, HTI., Lima Pessôa B; Neurosurgery, Fluminense Federal University, Niterói, BRA.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Oct 07; Vol. 16 (10), pp. e70993. Date of Electronic Publication: 2024 Oct 07 (Print Publication: 2024).
DOI:	10.7759/cureus.70993
Abstrakt:	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. Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, McBenedict et al.)
Databáze:	MEDLINE
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