The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease.

ABSTRACT:

Background

Copy number variations (CNVs) have been shown to be overrepresented in children with congenital heart disease (CHD). Genetic evaluation of CHD is currently underperformed in China. We sought to determine the occurrence of CNVs in CNV regions with disease-causing potential among a large cohort of Chinese pediatric CHD patients and investigate whether these CNVs could be the important critical modifiers of surgical intervention.

Methods

CNVs screenings were performed in 1,762 Chinese children who underwent at least one cardiac surgery. CNV status at over 200 CNV locus with disease-causing potential was analyzed with a high-throughput ligation-dependent probe amplification (HLPA) assay.

Results

We found 378 out of 1,762 samples (21.45%) to have at least one CN

SUBMITTER: Yu X 

PROVIDER: S-EPMC10244782 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature