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Hypertrabeculation; a phenotype with Heterogeneous etiology
Progress in Cardiovascular Diseases ( IF 5.6 ) Pub Date : 2021-07-13 , DOI: 10.1016/j.pcad.2021.07.007
Fatemeh Adabifirouzjaei 1 , Sachiyo Igata 1 , Anthony Nicholas DeMaria 1
Affiliation  

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.



中文翻译:

超小梁;具有异质病因的表型

左心室高小梁 (LVHT) 是一种具有多种病因和可变临床表现和意义的表型。它的特点是具有扩大的小梁层和较薄的致密层的 2 层心肌。由于心脏成像的进步,患病率一直在增加。最初的注意力集中在先天性非致密化综合征上,LVHT 的存在总是归因于这种病因。然而,由于缺乏一致的诊断标准,LVHT 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得到报道。LVHT 通常与收缩功能障碍、心律失常和血栓栓塞事件有关。鉴于病因异质性,预后和结果主要由合并症决定,治疗由已知指南决定。我们将超小梁 (HT) 作为一种表型,并讨论了该病的分类、病因、诊断和管理方面的不同情况。

更新日期:2021-07-13
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