{"id":2090,"date":"2025-08-04T12:30:53","date_gmt":"2025-08-04T12:30:53","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2090"},"modified":"2026-02-22T01:01:27","modified_gmt":"2026-02-22T01:01:27","slug":"congenital-heart-disease-in-22q11-2-deletion-syndrome-meta-analysis-and-systematic-review-of-the-literature","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/04\/congenital-heart-disease-in-22q11-2-deletion-syndrome-meta-analysis-and-systematic-review-of-the-literature\/","title":{"rendered":"Congenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature (Contributed by Carina Sauter)"},"content":{"rendered":"

22q11.2 deletion syndrome is recognized as the second most common genetic cause of congenital heart defects. While congenital heart abnormalities are common among individuals with 22q11.2 deletion syndrome, exact prevalence figures remain unclear. We conducted a meta-analysis of prevalence. Elevated prevalence rates were found for tetralogy of Fallot (20%) ventricular septal defect (14%) pulmonary atresia with ventricular septal defect (9%), interrupted aortic arch (10%), truncus arteriosus communis (9%) as well as atrial septal defect (3%). The findings highlight the importance of screening for cardiac defects in patients with 22q11.2DS and genetic screening for 22q11.2DS in patients with congenital heart disease. (https:\/\/jmg.bmj.com\/content\/early\/2025\/07\/31\/jmg-2025-110624<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

22q11.2 deletion syndrome is recognized as the second most common genetic cause of congenital heart defects. While congenital heart abnormalities are common among individuals with 22q11.2 deletion syndrome, exact prevalence figures remain unclear. We conducted a meta-analysis of prevalence. Elevated prevalence rates were found for tetralogy of Fallot (20%) ventricular septal defect (14%) pulmonary atresia […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2090","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nCongenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature (Contributed by Carina Sauter) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/04\/congenital-heart-disease-in-22q11-2-deletion-syndrome-meta-analysis-and-systematic-review-of-the-literature\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Congenital heart disease in 22q11.2 Deletion syndrome: meta-analysis and systematic review of the literature (Contributed by Carina Sauter) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"22q11.2 deletion syndrome is recognized as the second most common genetic cause of congenital heart defects. 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