子供の初級親戚における高縮性心筋症の臨床スクリーニングの効果
Gabrielle Norrish1,2, Joanna Jager1,2, Ella Field1
1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London UK (G.N., J.J., E.F., H.F., E.L., E.C., J.P.K.).
Circulation
|April 23, 2019
まとめ
ハイパルトロフィック心筋病 (HCM) のスクリーニングを受けた子供のほぼ5%は,しばしば青春期前に診断されます. これは,家族性HCMの早期の臨床スクリーニングが有益であることを示唆しています.
科学分野:
- 心臓病科
- 遺伝学
- 小児科
背景:
- ハイパルトロフィック心筋病 (HCM) は遺伝性心筋疾患である.
- 現在のガイドラインでは 10歳からの親戚のスクリーニングが推奨されています.
- この年齢に基づくスクリーニングの臨床的価値は十分に確立されていません.
研究 の 目的:
- 子供における家族性HCMの現在のスクリーニング推奨の臨床的有用性を評価する.
- 小児の親族におけるHCMの発症年齢と発現を決定する.
主な方法:
- HCMをスクリーニングした子供の匿名化された臨床データの遡及分析.
- 入会基準:HCMと診断された一級親族の子供 (≤18歳).
- 1994年から2017年の間に実施された 連続評価
主要な成果:
- 1198人の子供のうち32人 (2. 7%) が初期に診断され,25人がフォローアップ中にHCMを発症した.
- 診断時の平均年齢は10歳であり,ほとんどの患者は12歳未満でした.
- 検診を受けた一級親戚の子供の5%がHCMの基準を満たし,その多くは青春期前でした.
結論:
- HCMの診断は,小児の親戚で,しばしば10歳前に起こります.
- 幼少期のHCMの多様で時には重症な表型は,早期のスクリーニングをサポートします.
- 現行のスクリーニングガイドラインは,小児を含むように修正する必要があるかもしれません.
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