Hypertrophic Cardiomyopathy.

IF 3.8 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Current Heart Failure Reports Pub Date : 2024-08-01 Epub Date: 2024-03-15 DOI:10.1007/s11897-024-00654-0
Jason N Dungu, Amy Hardy-Wallace, Anthony D Dimarco, Henry O Savage
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引用次数: 0

Abstract

Purpose of review: Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with potential for severe complications including sudden cardiac death. Early diagnosis allows appropriate risk stratification and prompt intervention to minimise the potential for adverse outcomes. The implications of poorly coordinated screening are significant, either missing relatives at high-risk or burdening low-risk individuals with a diagnosis associated with reduced life expectancy. We aim to guide clinicians through the diagnostic pathway through to novel treatment options. Several conditions mimic the condition, and we discuss the phenocopies and how to differentiate from HCM.

Recent findings: We summarise the latest developments informing clinical decision making in the modern era of myosin inhibitors and future gene editing therapies. Early identification will enable prompt referral to specialist centres. A diagnostic flowchart is included, to guide the general cardiology and heart failure clinician in important decision making regarding the care of the HCM patient and importantly their relatives at risk. We have highlighted the importance of screening because genotype-positive/phenotype-negative patients are likely to have the most to gain from novel therapies.

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肥厚型心肌病。
综述目的:肥厚型心肌病(HCM)是一种常见的遗传性心脏病,有可能引发严重的并发症,包括心脏性猝死。早期诊断可进行适当的风险分层和及时干预,最大限度地降低不良后果的可能性。协调不当的筛查会造成重大影响,要么漏掉高风险亲属,要么给低风险患者带来诊断负担,导致预期寿命缩短。我们的目标是指导临床医生完成从诊断到新型治疗方案的整个过程。有几种病症与 HCM 相似,我们将讨论这些表型以及如何与 HCM 进行鉴别:我们总结了现代肌球蛋白抑制剂和未来基因编辑疗法的最新进展,为临床决策提供参考。早期识别将有助于及时转诊至专科中心。我们还提供了一张诊断流程图,以指导普通心脏病学和心力衰竭临床医生就 HCM 患者及其高危亲属的护理做出重要决策。我们强调了筛查的重要性,因为基因型阳性/表型阴性的患者可能从新型疗法中获益最多。
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来源期刊
Current Heart Failure Reports
Current Heart Failure Reports Medicine-Emergency Medicine
CiteScore
5.30
自引率
0.00%
发文量
44
期刊介绍: This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of heart failure. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as investigative, pharmacologic, and nonpharmacologic therapies, pathophysiology, and prevention. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
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