先天性心疾患は，出生1,000人につき5～10人の頻度で発生し，生命予後に大きな影響を及ぼす先天異常である．先天性心疾患の多くは多因子遺伝により発症するが，一部は染色体異常または先天異常症候群の合併症として生じることから，特定の染色体上に座位する遺伝子の異常が，先天性心疾患の原因となることが示唆される．近年の分子遺伝学的研究の進歩により，染色体異常を端緒として，心血管疾患の候補遺伝子の同定や，心血管発生の分子メカニズムの解明が進められている．本稿では，染色体異常のうち，小児循環器医が日常診療で関与する頻度が高く，保険診療内で診断可能な疾患を取り上げ，それらの遺伝学的要因と先天性心疾患の特徴について述べる．
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
© 2024 特定非営利活動法人日本小児循環器学会© 2024 Japanese Society of Pediatric Cardiology and Cardiac Surgery
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This page was last modified on 2024-05-27T17:27:34.000+09:00
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