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肥厚型表型的复杂谜题:临床医生的实用方法

The Complex Puzzle of Hypertrophic Phenotype: A Practical Approach for the Clinician.

作者信息

Felix Alex Dos Santos, Barberato Silvio Henrique, Melo Marcelo Dantas Tavares de, Rosa Sílvia Aguiar, Cardim Nuno

机构信息

Instituto Nacional de Cardiologia, Rio de Janeiro, RJ - Brasil.

DASA - Diagnósticos da América SA, Rio de Janeiro, RJ - Brasil.

出版信息

Arq Bras Cardiol. 2025 Mar;122(1):e20240529. doi: 10.36660/abc.20240529.

DOI:10.36660/abc.20240529
PMID:40197947
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12013738/
Abstract

Left ventricular hypertrophy (LVH) represents a frequent observation in clinical practice. Nonetheless, the hypertrophic phenotype emerges as a common manifestation of diverse conditions, thereby presenting a diagnostic conundrum for clinicians. Differentiation among the etiologies of LVH is imperative for therapy decision-making, as different approaches must be implemented for distinct conditions, such as LVH secondary to loading changes, hypertrophic cardiomyopathy (HCM), or HCM mimics. In some instances, an erroneous or late diagnosis may lead to a progression of the underlying disease with worsening functional capacity, high morbidity and mortality. The rational use of cardiovascular multimodality imaging is of great importance when carried out in addition to a thorough clinical assessment and correlated with electrocardiographic findings, providing clues to fill the gaps, being, most of the time, the missing piece to solve this challenging puzzle. An integrative approach is of paramount importance for the evaluation of these patients, as they are often followed by several specialties, with varied systemic manifestations. Although a multidisciplinary team is needed for an optimized follow-up of these patients, the most important player in this journey is the clinician, whose mission is to bring together all the red flags and coordinate all the data for an assertive diagnosis. The objective of this review is to provide a pragmatic methodology, highlighting important clues for discriminating among the diverse conditions that result in LVH.

摘要

左心室肥厚(LVH)在临床实践中较为常见。然而,肥厚型表型是多种病症的常见表现,这给临床医生带来了诊断难题。区分LVH的病因对于治疗决策至关重要,因为针对不同情况必须采取不同的方法,例如继发于负荷变化的LVH、肥厚型心肌病(HCM)或HCM模拟病症。在某些情况下,错误或延迟的诊断可能导致基础疾病进展,功能能力恶化,发病率和死亡率升高。除了进行全面的临床评估并与心电图结果相关联外,合理使用心血管多模态成像非常重要,它能提供线索来填补空白,在大多数情况下,是解决这一具有挑战性难题的关键环节。对于这些患者的评估,综合方法至关重要,因为他们常常由多个专科进行随访,存在各种全身表现。虽然对这些患者进行优化随访需要多学科团队,但在此过程中最重要的角色是临床医生,其任务是汇总所有警示信号并协调所有数据以做出明确诊断。本综述的目的是提供一种实用方法,突出区分导致LVH的不同病症的重要线索。

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本文引用的文献

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Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024.肥厚型心肌病诊断与治疗指南 - 2024
Arq Bras Cardiol. 2024 Jul 26;121(7):e202400415. doi: 10.36660/abc.20240415.
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2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.2024 AHA/ACC/AMSSM/HRS/PACES/SCMR 肥厚型心肌病管理指南:美国心脏协会/美国心脏病学会联合临床实践指南委员会的报告。
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Limitations of apical sparing pattern in cardiac amyloidosis: a multicentre echocardiographic study.
心脏淀粉样变性中保留心尖模式的局限性:一项多中心超声心动图研究
Eur Heart J Cardiovasc Imaging. 2024 May 31;25(6):754-761. doi: 10.1093/ehjci/jeae021.
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Arq Bras Cardiol. 2023 Dec;120(12):e20230646. doi: 10.36660/abc.20230646.
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