生まれながらの心不全が家族に再発する

Nina Øyen¹, Gry Poulsen, Heather A Boyd

¹Department of Epidemiology Research, Statens Serum Institut, Copenhagen S, Denmark. noy@ssi.dk

Circulation

|July 15, 2009

まとめ

生まれながらの心臓病 (CHD) は強い家族集団化を示しており,そのリスクは親族の80倍にも上ります. しかし,家族歴は,人口の全体的なCHD症例のわずかなパーセントしか占めていません.

科学分野:

心血管遺伝学心血管遺伝学
ペディアトリック・カルディオロジー
公共衛生ゲノミクス

背景:

生まれながらの心疾患 (CHD) に対する家族の寄与は十分に理解されていません.
CHDの家族歴の個人リスクと人口の影響を推定することは極めて重要です.

研究の目的:

罹患者の親族における心臓病の個別のリスクを定量化する.
家族歴によるCHDの集団関連リスクを決定する.

主な方法:

デンマークで生まれた1,763,591人の国民コホート研究 (1977-2005).
患者,死亡,細胞遺伝,家族関係に関するデータをリンクしたデンマークの登録簿.
18,708件のCHD症例のフェノタイプ分類と再発リスク比率の推定と,集団によるリスクの推定.

主要な成果:

第1度の親戚の再発リスク比率は,CHDのタイプによって大きく変化し,孤立した心室隔膜欠陥の3.4からヘテロタクシアの79.1まで変化した.
同じ欠陥の全般的な再発リスクは8.15であり,異なる欠陥の場合は2.68であった.
第1次親族の家族歴は,CHD症例の2.2% (染色体異常を除く4.2%) を占めた.

結論:

特定の先天性心疾患は,強い,しかし変数的な,家族的なクラスタリングを示す.
特定のCHDの家族リスクが高くても,家族歴はCHDの全体的な人口の負担に最小限に寄与します.

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