The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye

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dc.authoridOnrat, Ersel/0000-0002-2215-6570
dc.authoridKis, Mehmet/0000-0003-0775-8992
dc.authoridEvlice, Mert/0000-0003-4733-6348
dc.authoridBasarici, Ibrahim/0000-0003-4435-337X
dc.contributor.authorOktay, Veysel
dc.contributor.authorTufekcioglu, Omac
dc.contributor.authorYilmaz, Dilek Cicek
dc.contributor.authorOnrat, Ersel
dc.contributor.authorKarabulut, Dilay
dc.contributor.authorCelik, Murat
dc.contributor.authorBalcioglu, Akif Serhat
dc.date.accessioned2025-01-27T20:29:34Z
dc.date.available2025-01-27T20:29:34Z
dc.date.issued2023
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBackground: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Turkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.
dc.description.sponsorshipSanofi Turkey
dc.description.sponsorshipThe authors thank Cagla Ayhan, MD, and Prof Sule Oktay, MD, PhD., from KAPPA Consultancy Training Research Ltd, Istanbul, who provided editorial support funded by Sanofi Turkey, and Canser Boz, MD, from Istanbul University Cerrahpasa Faculty of Health Sciences for his contributions in statistical analysis.
dc.identifier.doi10.14744/AnatolJCardiol.2023.2805
dc.identifier.endpage638
dc.identifier.issn2149-2263
dc.identifier.issn2149-2271
dc.identifier.issue11
dc.identifier.pmid37466024
dc.identifier.scopus2-s2.0-85176237089
dc.identifier.scopusqualityQ3
dc.identifier.startpage628
dc.identifier.urihttps://doi.org/10.14744/AnatolJCardiol.2023.2805
dc.identifier.urihttps://hdl.handle.net/20.500.12428/22984
dc.identifier.volume27
dc.identifier.wosWOS:001138681200006
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherKare Publ
dc.relation.ispartofAnatolian Journal of Cardiology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectHypertrophic cardiomyopathy
dc.subjectgenetic mutation
dc.subjectFabry disease
dc.subjectnext-generation sequencing
dc.titleThe Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye
dc.typeArticle

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