Hypertrabeculation; a phenotype with heterogenous etiology

Prog Cardiovasc Dis. 2021 Jul 12;S0033-0620(21)00075-X. doi: 10.1016/j.pcad.2021.07.007. Online ahead of print.

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.

Keywords: Congenital noncompaction syndrome; Echocardiography; Left ventricular hypertrabeculation; Magnetic resonance imaging.

Publication types

  • Review