{
  "abstract": "The 22q11.2 deletion syndrome (22q11.2DS) results from a heterozygous deletion at chromosomal locus 22q11.2 and is associated with multisystem symptoms, including cardiovascular, psychiatric and palatal manifestations. Although congenital cardiovascular aberrations are frequent in patients with 22q11.DS, exact prevalence figures remain unclear. Literature was searched in August 2022 and updated in May 2024 using the databases PubMed, Web of Science and Cochrane library to retrieve studies in English and German focusing only on studies involving 22q11.2DS. Prevalence data for cardiovascular aberrations were arcsine transformed and summarised by random-effects models using Meta-XL. Evidence quality was assessed via the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. The systematic searches identified 4338 studies, of which 7 were included for the meta-analysis of prevalence using random-effects models and sensitivity analyses. The pooled prevalence for heart defects (mean; 95% CI) was found to be elevated for tetralogy of Fallot (20%; 0.17 to 0.23), ventricular septal defect (14%; 0.12 to 0.16), pulmonary atresia with ventricular septal defect (9%; 0.06; 0.12), interrupted aortic arch (10%; 0.06 to 0.15), truncus arteriosus communis (9%; 0.07 to 0.12) and atrial septal defect (3%; 0.01 to 0.04). The risk of bias of the included studies was low to moderate. This study, to our knowledge, represents the first systematic review and meta-analysis of prevalences for congenital cardiovascular aberrations in individuals with 22q11.2DS. The high frequencies observed underline the need for cardiovascular screening in patients with 22q11.2DS and genetic screening for 22q11.2DS in congenital heart disease.",
  "authors": [
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany"
      ],
      "name": "Carina Sauter"
    },
    {
      "affiliations": [
        "University Hospital Tübingen, Department of Pediatric Cardiology and Intensive Care Medicine, Tübingen, Germany"
      ],
      "name": "Michael Hofbeck"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany"
      ],
      "name": "Paula Franz"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany"
      ],
      "name": "Laura Kettenstock"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany"
      ],
      "name": "Klara Steger"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany",
        "German Center of Prevention Research in Mental Health, Würzburg, Germany"
      ],
      "name": "Matthias Linhardt"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany",
        "German Center of Prevention Research in Mental Health, Würzburg, Germany",
        "Institute of Psychology, Julius Maximilians University Würzburg, Würzburg, Germany"
      ],
      "name": "Andrea Reiter"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Department Clinical Research & Epidemiology, Comprehensive Heart Failure Center, Würzburg, Germany",
        "University Hospital Würzburg, Department of Internal Medicine I, Würzburg, Germany"
      ],
      "name": "Stefan Störk"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany",
        "German Center of Prevention Research in Mental Health, Würzburg, Germany"
      ],
      "name": "Marcel Romanos"
    },
    {
      "affiliations": [
        "University Hospital Würzburg, Center of Mental Health, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Würzburg, Germany"
      ],
      "name": "Franziska Radtke"
    }
  ],
  "title": "Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature",
  "uid": "f7b0d768-a412-5678-aa6e-08a02f212ae6"
}