Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases

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dc.contributor.authorEsener, Zeynep
dc.contributor.authorAtes, Kubra
dc.contributor.authorOzturk, Murat
dc.contributor.authorKarakurt, Cemsit
dc.contributor.authorElkiran, Ozlem
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2026-04-04T13:33:16Z
dc.date.available2026-04-04T13:33:16Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractIntroduction: Congenital heart diseases are a group of diseases present at birth, including anatomical and physiological abnormalities of the heart. They are the most common birth defects observed in the populations. The etiology is quite diverse. Although they mostly show a multifactorial inheritance pattern, chromosome abnormalities, copy number variations, single gene diseases, and environmental factors are involved in the etiology. Even though the etiology can be detected at a higher rate in syndromic cases, it has not been elucidated in most syndromic and non-syndromic cases. Our study aimed to detect copy number variations in syndromic and non-syndromic cases through chromosomal microarray analysis, to reveal the diagnostic value of the method, and to determine possible new loci. Methods: Patient files, photographs, and laboratory results of 85 cases (55 syndromic and 30 non-syndromic) who had congenital heart disease and chromosomal microarray analysis were retrospectively evaluated. The differences between the groups were analyzed with Chi-square and Mann-Whitney U tests. Results: Pathogenic/likely pathogenic copy number variations were detected in 32.7% (18/55) of the syndromic case group and 6.7% (2/30) of the non-syndromic case group. The diagnostic efficacy of chromosomal microarray analysis in the diagnosis and the age at the time of admission were statistically significant between groups. Conclusion: Our study suggest that the chromosomal microarray analysis is a valuable diagnostic tool to elucidate the etiology of congenital heart diseases.
dc.identifier.doi10.1159/000543698
dc.identifier.endpage448
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue5
dc.identifier.orcid0000-0002-0669-8230
dc.identifier.pmid41230209
dc.identifier.scopus2-s2.0-86000609248
dc.identifier.scopusqualityQ4
dc.identifier.startpage442
dc.identifier.urihttps://doi.org/10.1159/000543698
dc.identifier.urihttps://hdl.handle.net/11616/109050
dc.identifier.volume16
dc.identifier.wosWOS:001426670700001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherKarger
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectCongenital heart disease
dc.subjectCopy number variations
dc.subjectMicroarray
dc.subjectMicrodeletion
dc.subjectMicroduplication
dc.titleChromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases
dc.typeArticle

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