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Updated: Nov 17, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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心臓チャネロパシーにおける性別の違い:臨床実務への影響

Babken Asatryan1, Lauren Yee2, Yael Ben-Haim3,4

  • 1Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Switzerland (B.A., S.D., H.S., L.R., H.T., T.R., K.E.O.).

Circulation
|February 15, 2021
PubMed
まとめ

性別はQT延長症候群やブルガダ症候群のような心臓のチャネル病に 影響を及ぼし,男性と女性の疾患リスクと結果が異なる. 性別による差異を理解することは パーソナライズされた患者のケアに不可欠です

キーワード:
ブルガダ症候群心臓発作突然の心臓発作による死亡性別アイデンティティ遺伝子について長いQTシンドロームセックス

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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