Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases

<bold>Introduction:</bold> 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. <bold>Methods:</bold> 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. <bold>Results:</bold> 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. <bold>Conclusion:</bold> Our study suggest that the chromosomal microarray analysis is a valuable diagnostic tool to elucidate the etiology of congenital heart diseases.