与心脏病有关的遗传学:对全科医生的影响。

IF 1.6 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Australian Journal of General Practice Pub Date : 2024-07-01 DOI:10.31128/AJGP-10-23-6986
Kevin Ng, Atifur Rahman
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引用次数: 0

摘要

背景:心血管疾病(CVDs)对全球健康构成重大挑战,遗传学日益被认为是与传统风险因素并存的关键因素。这为全科医生(GPs)提供了一个完善自身方法的机会:本文探讨了遗传学对心血管疾病的影响及其对全科医生的意义。文章讨论了遗传性心肌病等单基因疾病和多基因风险,以及药物遗传学,旨在加强风险评估和个性化护理:讨论:由单基因突变引起的单基因疾病表现出可预测的遗传模式,包括遗传性心肌病和通道病,如长 QT 综合征。多基因风险涉及影响心血管疾病易感性的多个基因变异,可通过多基因风险评分进行精确的风险评估。药物遗传学根据基因图谱量身定制药物干预措施,但仍存在可及性和伦理考虑等挑战。将遗传学融入心血管治疗,有望减轻全球心血管疾病负担,改善患者预后。
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Genetics in relation to cardiac diseases: Implications for general practitioners.

Background: Cardiovascular diseases (CVDs) pose significant global health challenges, with genetics increasingly recognised as a key factor alongside traditional risk factors. This presents an opportunity for general practitioners (GPs) to refine their approaches.

Objective: This article explores the impact of genetics on CVDs and its implications for GPs. It discusses monogenic disorders like inherited cardiomyopathies and polygenic risks, as well as pharmacogenetics, aiming to enhance risk assessment and personalised care.

Discussion: Monogenic disorders, driven by single gene mutations, exhibit predictable inheritance patterns, including inherited cardiomyopathies and channelopathies such as Long QT syndrome. Polygenic risks involve multiple genetic variants influencing CVD susceptibility, addressed through polygenic risk scores for precise risk assessment. Pharmacogenetics tailor drug interventions based on genetic profiles, though challenges like accessibility and ethical considerations persist. Integrating genetics into cardiovascular care holds promise for alleviating the global CVD burden and improving patient outcomes.

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来源期刊
Australian Journal of General Practice
Australian Journal of General Practice Medicine-Family Practice
CiteScore
2.80
自引率
4.50%
发文量
284
期刊介绍: The Australian Journal of General Practice (AJGP) aims to provide relevant, evidence-based, clearly articulated information to Australian general practitioners (GPs) to assist them in providing the highest quality patient care, applicable to the varied geographic and social contexts in which GPs work and to all GP roles as clinician, researcher, educator, practice team member and opinion leader. All articles are subject to peer review before they are accepted for publication.
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