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心脏肥大:从胎儿期到青年期的全面综述

Cardiac Hypertrophy: A Comprehensive Review from Prenatal Life to Young Adulthood.

作者信息

Avesani Martina, Pomiato Elettra, Moscatelli Sara, Sabatino Jolanda, Borrelli Nunzia, Luedke Leonie, De Sarro Rosalba, Pavesi Sara, Pelaia Giulia, Mastellone Claudio, Leo Isabella, Di Salvo Giovanni

机构信息

Paediatric Cardiology Unit, Department of Woman's and Child's Health, University Hospital of Padua, 35128 Padua, Italy.

Centre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Sciences, University College London, London WC1E 6BT, UK.

出版信息

Children (Basel). 2025 Jul 28;12(8):989. doi: 10.3390/children12080989.

Abstract

Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies-including metabolic, mitochondrial, and syndromic diseases-can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care.

摘要

心肌肥厚(MH)在儿童和青年人群中是一种复杂且异质性的病症。虽然在儿童中较为罕见,但MH涵盖了广泛的生理和病理实体,从糖尿病母亲的婴儿中的短暂性肥厚到具有显著发病率和死亡率的进行性遗传性肥厚型心肌病(HCM)。鉴别诊断至关重要,因为许多表型模拟物——包括代谢性、线粒体和综合征性疾病——都可能模仿HCM。超声心动图仍然是一线成像方式,心脏磁共振成像(CMR)和分子诊断越来越多地用于详细表征。风险分层工具,如HCM Risk-Kids模型,支持临床决策,但必须与个体化评估相结合。产前筛查和基因检测的进展显著改善了治疗结果,尽管长期管理需要多学科护理。了解特定年龄的表现和潜在病因对于准确诊断和靶向治疗至关重要。本综述全面概述了从胎儿期到青年期的心脏肥厚,重点关注病因、诊断方法、成像方式和治疗策略,旨在指导临床医生应对不断演变的MH情况,强调早期识别、全面评估和个性化护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7baf/12384158/0276f1814ef0/children-12-00989-g001.jpg

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