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

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dc.contributor.authorOktay V.
dc.contributor.authorTüfekçioğlu O.
dc.contributor.authorYılmaz D.Ç.
dc.contributor.authorOnrat E.
dc.contributor.authorKarabulut D.
dc.contributor.authorÇelik M.
dc.contributor.authorBalcıoğlu A.S.
dc.contributor.authorSucu M.M.
dc.contributor.authorÖzdemir G.
dc.contributor.authorKaya H.
dc.contributor.authorKış M.
dc.contributor.authorGüven B.
dc.contributor.authorBağdatoğlu O.
dc.contributor.authorÇağlar F.N.T.
dc.contributor.authorYüksel U.Ç.
dc.contributor.authorDüzen İ.V.
dc.contributor.authorBarutçu A.
dc.contributor.authorŞimşir Ö.S.
dc.contributor.authorBaşarıcı İ.
dc.contributor.authorParspur A.
dc.contributor.authorDalgıç O.
dc.contributor.authorÖzlük F.Ö.A.
dc.contributor.authorEvlice M.
dc.contributor.authorSağ S.
dc.contributor.authorDeniz M.F.
dc.contributor.authorÖcal A.
dc.contributor.authorGazi E.
dc.contributor.authorŞen T.
dc.contributor.authorÖzdabakoğlu O.
dc.contributor.authorÇakıcı N.B.
dc.contributor.authorBakır E.O.
dc.contributor.authorKunak A.Ü.
dc.contributor.authorÇaylı G.
dc.contributor.authorTaşdelen A.G.
dc.contributor.authorAkşit E.
dc.contributor.authorÇil Ş.U.
dc.contributor.authorOnay H.
dc.date.accessioned2024-07-22T08:02:24Z
dc.date.available2024-07-22T08:02:24Z
dc.date.issued2023
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 Türkiye. 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. Copyright@Author(s) - Available online at anatoljcardiol.com.
dc.identifier.DOI-ID10.14744/AnatolJCardiol.2023.2805
dc.identifier.issn21492263
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/11848
dc.language.isoEnglish
dc.publisherTurkish Society of Cardiology
dc.rightsAll Open Access; Gold Open Access
dc.subjectCardiomyopathy, Hypertrophic
dc.subjectFabry Disease
dc.subjectHumans
dc.subjectMutation
dc.subjectPhenotype
dc.subjectSarcomeres
dc.subjectalpha galactosidase
dc.subjectadult
dc.subjectaortic stenosis
dc.subjectArticle
dc.subjectatrial fibrillation
dc.subjectATTR amyloidosis
dc.subjectcardiovascular magnetic resonance
dc.subjectcomputer assisted tomography
dc.subjectdiagnostic value
dc.subjectdried blood spot testing
dc.subjectechocardiography
dc.subjectFabry disease
dc.subjectgene mutation
dc.subjectgenetic variability
dc.subjectgenotype
dc.subjecthigh throughput sequencing
dc.subjecthuman
dc.subjecthypertension
dc.subjecthypertrophic cardiomyopathy
dc.subjectleft ventricular wall thickness
dc.subjectmale
dc.subjectmolecular diagnosis
dc.subjectmutation
dc.subjectnon insulin dependent diabetes mellitus
dc.subjectNon-Sarcomeric Gene Mutation
dc.subjectsarcomere
dc.subjectSarcomeric Gene Mutation
dc.subjectscoring system
dc.subjectsingle nucleotide polymorphism
dc.subjectsudden cardiac death
dc.subjectclinical trial
dc.subjectFabry disease
dc.subjectgenetics
dc.subjectmetabolism
dc.subjectmulticenter study
dc.subjectmutation
dc.subjectpathology
dc.subjectphenotype
dc.titleThe Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
dc.typeArticle

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