Abstract

DELEA, Marisol et al. Analysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects. Rev. argent. salud pública [online]. 2021, vol.13, pp.81-90. ISSN 1852-8724.

INTRODUCTION: Congenital heart diseases (CHD) are structural anomalies of the heart and great vessels present at birth. CHD encompass a broad spectrum of anomalies affecting around 0.6%-0.9% of all live births worldwide. In Argentina, CHD account for one-third of all birth defects. Their etiology is heterogeneous; however, family recurrence has been observed in accordance with the influence of genetic factors. The objective of the study was to analyze the presence of chromosomal abnormalities, genomic imbalances and/or sequence variants in a sample of children with CHD in Argentina.

METHODS: A total of 289 patients with CHD up to 16 years old were included. Karyotyping was performed for patients with other birth defects, and genomic regions associated with CHD were studied by multiplex ligation-dependent probe amplification (MLPA) in patients with conotruncal CHD. In selected samples, genomic imbalances and/or sequence variants were analyzed by array comparative genomic hybridization (a-CGH) or by direct sequencing of the NKX2-5 gene, respectively.

RESULTS: There were 9 patients with chromosomal abnormalities, 21 had genomic imbalances detected by MLPA and 8 by array- CGH. No pathogenic variants were found in NKX2-5.

DISCUSSION: The genetic cause was found in 13% of the analyzed cases. This work represents the first study in patients with CHD either isolated or associated with other birth defects in Argentina.

Keywords : Congenital heart diseases; Medical genetics; Chromosome anomalies; Genomic imbalances.

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