Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 40(1): 41-56 (2024)


先天性心疾患を合併する染色体異常Chromosomal Abnormalities Associated with Congenital Heart Disease

東京都立小児総合医療センター 循環器科Department of Cardiology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan

発行日:2024年2月29日Published: February 29, 2024


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.

Key words: chromosomal abnormality; congenital anomaly syndrome; congenital heart disease; trisomy; microdeletion

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