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心血管遗传学：遗传学在预测风险中的作用。

Cardiovascular Genetics: The Role of Genetics in Predicting Risk.

机构信息

Division of Cardiovascular Medicine, Department of Medicine, Center for Inherited Cardiovascular Disease, Perelman School of Medicine at the University of Pennsylvania, Perelman Center for Advanced Medicine, 3400 Civic Center Boulevard, 11th Floor South Pavilion, Philadelphia, PA 19104, USA.

Division of Cardiovascular Medicine, Department of Medicine, Center for Inherited Cardiovascular Disease, Perelman School of Medicine at the University of Pennsylvania, Perelman Center for Advanced Medicine, 3400 Civic Center Boulevard, 11th Floor South Pavilion, Philadelphia, PA 19104, USA.

出版信息

Med Clin North Am. 2022 Mar;106(2):313-324. doi: 10.1016/j.mcna.2021.11.007. Epub 2022 Feb 2.

DOI:10.1016/j.mcna.2021.11.007
PMID:35227433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8894793/
Abstract

Many cardiovascular disorders have underlying genetic causes. Clinical genetic testing for cardiovascular disease has become widely available and can be useful for diagnosis, management, and cascade screening in selected conditions and circumstances. This article gives an overview of the current state of genetic testing in inherited cardiovascular conditions, who can benefit from it, and the associated challenges.

摘要

许多心血管疾病都有潜在的遗传原因。心血管疾病的临床基因检测已经广泛应用，可以在特定情况下和环境中用于诊断、管理和级联筛查。本文概述了遗传性心血管疾病基因检测的现状、哪些人可以从中受益以及相关挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/6bb239741f8b/nihms-1776983-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/9a22abf55628/nihms-1776983-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/2f369396393c/nihms-1776983-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/f6405539f990/nihms-1776983-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/6bb239741f8b/nihms-1776983-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/9a22abf55628/nihms-1776983-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/2f369396393c/nihms-1776983-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/f6405539f990/nihms-1776983-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6689/8894793/6bb239741f8b/nihms-1776983-f0004.jpg

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JMIR Med Educ. 2020 Dec 8;6(2):e21787. doi: 10.2196/21787.
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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.2020 年 APHRS/HRS 关于猝死和心搏骤停患者及其家属尸检调查的专家共识声明
Heart Rhythm. 2021 Jan;18(1):e1-e50. doi: 10.1016/j.hrthm.2020.10.010. Epub 2020 Oct 19.
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Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.
血脂异常的基因检测：国家脂质协会的科学声明。
J Clin Lipidol. 2020 Jul-Aug;14(4):398-413. doi: 10.1016/j.jacl.2020.04.011. Epub 2020 May 7.
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The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
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Polygenic risk scores: from research tools to clinical instruments.多基因风险评分：从研究工具到临床工具。
Genome Med. 2020 May 18;12(1):44. doi: 10.1186/s13073-020-00742-5.
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Making the case for cascade screening among families with inherited heart disease.
Heart Rhythm. 2020 Jan;17(1):113-114. doi: 10.1016/j.hrthm.2019.07.014. Epub 2019 Jul 13.
7
Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.临床心血管遗传学专业项目的建立：认识需求并满足标准：美国心脏协会的科学声明。
Circ Genom Precis Med. 2019 Jun;12(6):e000054. doi: 10.1161/HCG.0000000000000054. Epub 2019 May 23.
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2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.2019 HRS 专家共识声明：心律失常性心肌病的评估、风险分层和管理。
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