長期QT症候群の第3 trimesterの胎児の損失と母親のモザイシズムの再発は長いQT症候群のために
Todd E Miller1, Elicia Estrella, Robert J Myerburg
1Department of Medicine (Division of Cardiology), University of Miami School of Medicine, Miami Fla, USA.
Circulation
|June 9, 2004
まとめ
SCN5A変異における生殖線モザイシズムは,無症状の母親であっても,子孫に重発する重度の長QT症候群 (LQTS) を引き起こす可能性があります. これは,原因不明の胎児喪失や幼児死亡の場合には,遺伝カウンセリングの必要性を強調しています.
科学分野:
- 遺伝学 遺伝学とは
- 心臓病学 心臓病学
- 生殖医学は,生殖器医学である.
背景:
- 遺伝疾患では,細菌系モザイシズムがますます認識され,新たな症例の10~20%を潜在的に説明しています.
- ロングQT症候群 (LQTS) は,深刻な遺伝性心律不整症である.
- SCN5A遺伝子は,心臓のリズム調節に関与する重要な心臓のナトリウムチャネルをコードする.
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