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心肌小梁增多症;一种具有异质性病因的表型。

Hypertrabeculation; a phenotype with Heterogeneous etiology.

机构信息

The Division of Cardiology, Sulpizio Cardiovascular Center, University of California at San Diego, San Diego, CA, USA.

The Division of Cardiology, Sulpizio Cardiovascular Center, University of California at San Diego, San Diego, CA, USA.

出版信息

Prog Cardiovasc Dis. 2021 Sep-Oct;68:60-69. doi: 10.1016/j.pcad.2021.07.007. Epub 2021 Jul 13.

Abstract

Left ventricular hypertrabeculation (LVHT) is a phenotype with multiple etiologies and variable clinical presentation and significance. It is characterized by a 2-layer myocardium with an enlarged trabecular layer and a thinner compacted layer. The prevalence has been increasing due to advances in cardiac imaging. Initial attention was focused on the congenital noncompaction syndrome, and the presence of LVHT was always attributed to this etiology. However, due to the lack of consensus diagnostic criteria, LVHT has now been reported in a broad spectrum of cardiomyopathies, congenital heart diseases, monogenetic disorders, neuromuscular diseases, and even healthy individuals. LVHT is often associated with systolic dysfunction, arrhythmias, and thromboembolic events. Given the etiologic heterogeneity, the prognosis and outcomes are primarily determined by comorbidities, and treatment is dictated by known guidelines. We present hypertrabeculation (HT) as a phenotype and discuss the varied landscape in the classification, etiology, diagnosis, and management of the condition.

摘要

左心室心肌肥厚(LVHT)是一种具有多种病因、临床表现和意义多变的表型。它的特征是心肌分为 2 层,其中包括一个增大的心肌小梁层和一个较薄的致密层。由于心脏成像技术的进步,其患病率一直在增加。最初的关注点集中在先天性心肌致密化不全上,并且 LVHT 的存在始终归因于这种病因。然而,由于缺乏共识的诊断标准,现在已经在广泛的心肌病、先天性心脏病、单基因疾病、神经肌肉疾病甚至健康个体中报告了 LVHT。LVHT 常与收缩功能障碍、心律失常和血栓栓塞事件有关。鉴于病因的异质性,预后和结局主要取决于合并症,治疗则由已知的指南决定。我们将心肌肥厚(HT)作为一种表型,并讨论该病症在分类、病因、诊断和管理方面的多样化情况。

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