日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Congenital heart disease occurs in 5 to 10 out of every 1000 live births and has a significant impact on mortality risk throughout life. Although most cases are due to multifactorial inheritance, some appear to be caused by a chromosomal abnormality or congenital anomaly syndrome, implying that specific genes within impaired chromosomes are to blame. Recent advances in molecular genetics have allowed for the identification of genes in critical genomic regions of chromosomal abnormality that may be at the root of congenital heart diseases, as well as the clarification of molecular pathways in cardiovascular development. The current article examines the clinical characteristics and genetics of chromosomal abnormalities associated with congenital heart diseases that are frequently detected by pediatric cardiologists during genetic examinations covered by National Health Insurance.