Imperial College London


Faculty of MedicineInstitute of Clinical Sciences

Reader in Imaging Sciences



+44 (0)20 3313 1510declan.oregan




Imaging Sciences DepartmentHammersmith HospitalHammersmith Campus






BibTex format

author = {Meyer, HV and Dawes, TJW and Serrani, M and Bai, W and Tokarczuk, P and Cai, J and de, Marvao A and Rueckert, D and Matthews, PM and Costantino, ML and Birney, E and Cook, SA and ORegan, DP},
doi = {10.1101/553651},
publisher = {Cold Spring Harbor Laboratory},
title = {Genomic analysis reveals a functional role for myocardial trabeculae in adults},
url = {},
year = {2019}

RIS format (EndNote, RefMan)

AB - <jats:title>ABSTRACT</jats:title><jats:p>Since being first described by Leonardo da Vinci in 1513 it has remained an enigma why the endocardial surfaces of the adult heart retain a complex network of muscular trabeculae – with their persistence thought to be a vestige of embryonic development. For causative physiological inference we harness population genomics, image-based intermediate phenotyping and <jats:italic>in silico</jats:italic> modelling to determine the effect of this complex cardiovascular trait on function. Using deep learning-based image analysis we identified genetic associations with trabecular complexity in 18,097 UK Biobank participants which were replicated in an independently measured cohort of 1,129 healthy adults. Genes in these associated regions are enriched for expression in the fetal heart or vasculature and implicate loci associated with haemodynamic phenotypes and developmental pathways. A causal relationship between increasing trabecular complexity and both ventricular performance and electrical activity are supported by complementary biomechanical simulations and Mendelian randomisation studies. These findings show that myocardial trabeculae are a previously-unrecognised determinant of cardiovascular physiology in adult humans.</jats:p>
AU - Meyer,HV
AU - Dawes,TJW
AU - Serrani,M
AU - Bai,W
AU - Tokarczuk,P
AU - Cai,J
AU - de,Marvao A
AU - Rueckert,D
AU - Matthews,PM
AU - Costantino,ML
AU - Birney,E
AU - Cook,SA
AU - ORegan,DP
DO - 10.1101/553651
PB - Cold Spring Harbor Laboratory
PY - 2019///
TI - Genomic analysis reveals a functional role for myocardial trabeculae in adults
UR -
ER -