Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Okashah S

PROVIDER: S-EPMC9407366 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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

Okashah Sarah S Vasudeva Dhanya D El Jerbi Aya A Khodjet-El-Khil Houssein H Al-Shafai Mashael M Syed Najeeb N Kambouris Marios M Udassi Sharda S Saraiva Luis R LR Al-Saloos Hesham H Udassi Jai J Al-Shafai Kholoud N KN

Genes 20220730 8

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 ...[more]

PMID: 36011280

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Project description:ImportanceIn the US, there are more than 1.5 million adults living with congenital heart disease (CHD). The Congenital Heart Initiative (CHI) is a digital, online, patient-empowered registry that was created to advance multicenter research and improve clinical care by gathering patient-reported outcomes (PROs) in adults with CHD.ObjectiveTo report the initial findings of the PROs for adults with CHD from the first 3 years of the CHI.Design, setting, and participantsThe CHI was launched nationally on December 7, 2020, as an observational cohort (survey) study. Data were collected virtually through December 31, 2023, and stored on Health Insurance Portability and Accountability Act-compliant cloud-based servers with restricted access. Adults with CHD were recruited through email, social media, general advertising through advocacy organizations, and targeted outreach (telephone and in-clinic recruitment) by clinical centers.Main outcomes and measuresDemographics and validated survey tools on quality of life, mental health, physical activity, and health care utilization were collected at baseline and every 4 months. Descriptive statistics were used to understand the associations between various factors, including the complexity of heart defects, physical activity levels, mental health comorbidities, and socioeconomic and health care access variables. All categorical variables were analyzed using χ2 or Fischer exact test as appropriate.ResultsBy December 31, 2023, the CHI had enrolled 4558 participants (2530 female [56%]) with a mean (SD) age of 38.5 (13.9) years, representing all 50 states. Approximately 88% of participants (3998 participants) completed at least 1 electronic visit as of December 31, 2023. The most prevalent CHD anatomy included tetralogy of Fallot (883 participants [22%]), transposition of great arteries (452 participants [11%]), and coarctation of the aorta (429 participants [11%]). Approximately 88% of participants (3998 participants) reported at least 1 comorbidity, with arrhythmia (1300 participants [33%]) as the most common cardiac comorbidity and mood disorder (1326 participants [35%]) as the most common noncardiac comorbidity. Among female participants, 45% (1147 participants) reported having had a pregnancy, with 38% (967 participants) resulting in biological children. Participants with complex CHD were less likely than those with moderate CHD to meet recommended physical activity guidelines (χ22 = 15.9; n = 3320; P < .001), a factor that was more pronounced among female participants. Overall health-related quality of life was rated as good or better by 84% of participants who completed the quality of life PROs (2882 participants), with no difference by CHD complexity.Conclusions and relevanceIn this cohort study of adults living with CHD, many patients reported mood disorders, but most reported good health-related quality of life. The CHI, the largest registry of adults with CHD, is poised to facilitate multicenter research with the goal of improving clinical outcomes for all adults with CHD.

Dataset Information

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

Publications

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

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