探索遗传性心肌病的渗透性和表型谱。

IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Heart Failure Reviews Pub Date : 2024-09-01 Epub Date: 2024-06-19 DOI:10.1007/s10741-024-10405-x
Frans Serpa, Caitlin M Finn, Usman A Tahir
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引用次数: 0

摘要

遗传性心肌病是一种可导致心力衰竭和心脏性猝死的遗传疾病。这些疾病往往是家族遗传,呈常染色体显性遗传模式,一级亲属携带致病变体的几率为 50%。尽管基因检测技术取得了重大进展,而且越来越容易获得,但由于这些疾病的临床表现固有的多变性和观察到的不完全渗透性,准确预测其表型表现仍然具有挑战性。这给患者护理以及向患者及其家属有效传达未来患病的潜在风险带来了挑战。为了应对这些挑战,本综述旨在综合现有的关于渗透性、表达性和影响疾病表达因素的证据,以改善遗传性心肌病患者及其家属的沟通和风险评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Navigating the penetrance and phenotypic spectrum of inherited cardiomyopathies.

Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families, following an autosomal dominant pattern where first-degree relatives have a 50% chance of carrying the pathogenic variant. Despite significant advancements and increased accessibility of genetic testing, accurately predicting the phenotypic expression of these conditions remains challenging due to the inherent variability in their clinical manifestations and the incomplete penetrance observed. This poses challenges in providing patient care and effectively communicating the potential risk of future disease to patients and their families. To address these challenges, this review aims to synthesize the available evidence on penetrance, expressivity, and factors influencing disease expression to improve communication and risk assessment for patients with inherited cardiomyopathies and their family members.

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来源期刊
Heart Failure Reviews
Heart Failure Reviews 医学-心血管系统
CiteScore
10.40
自引率
2.20%
发文量
90
审稿时长
6-12 weeks
期刊介绍: Heart Failure Reviews is an international journal which develops links between basic scientists and clinical investigators, creating a unique, interdisciplinary dialogue focused on heart failure, its pathogenesis and treatment. The journal accordingly publishes papers in both basic and clinical research fields. Topics covered include clinical and surgical approaches to therapy, basic pharmacology, biochemistry, molecular biology, pathology, and electrophysiology. The reviews are comprehensive, expanding the reader''s knowledge base and awareness of current research and new findings in this rapidly growing field of cardiovascular medicine. All reviews are thoroughly peer-reviewed before publication.
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