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Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry

journal contribution
submitted on 2024-04-02, 08:41 and posted on 2024-04-02, 08:42 authored by Sarah Okashah, Dhanya Vasudeva, Aya El Jerbi, Houssein Khodjet-El-khil, Mashael Al-Shafai, Najeeb Syed, Marios Kambouris, Sharda Udassi, Luis R. Saraiva, Hesham Al-Saloos, Jai Udassi, Kholoud N. Al-Shafai

Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal abnormalities and single gene mutations. Here, we describe the Sidra Cardiac Registry, which includes 52 families and a total of 178 individuals, and investigate the genetic etiology of CHD in Qatar. We reviewed the results of genetic tests conducted in patients as part of their clinical evaluation, including chromosomal testing. We also performed whole exome sequencing (WES) to identify potential causative variants. Sixteen patients with CHD had chromosomal abnormalities that explained their complex CHD phenotype, including six patients with trisomy 21. Moreover, using exome analysis, we identified potential CHD variants in 24 patients, revealing 65 potential variants in 56 genes. Four variants were classified as pathogenic/likely pathogenic based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification; these variants were detected in four patients. This study sheds light on several potential genetic variants contributing to the development of CHD. Additional functional studies are needed to better understand the role of the identified variants in the pathogenesis of CHD.

Other Information

Published in: Genes
See article on publisher's website:



  • English



Publication Year

  • 2022

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Qatar University
  • Qatar University Health - QU
  • College of Health Sciences - QU HEALTH
  • Sidra Medicine
  • Hamad Bin Khalifa University
  • College of Health and Life Sciences - HBKU

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