Genetic and functional insights into the fractal structure of the heart

Hannah V. Meyer (), Timothy J. W. Dawes, Marta Serrani, Wenjia Bai, Paweł Tokarczuk, Jiashen Cai, Antonio Marvao, Albert Henry, R. Thomas Lumbers, Jakob Gierten, Thomas Thumberger, Joachim Wittbrodt, James S. Ware, Daniel Rueckert, Paul M. Matthews, Sanjay K. Prasad, Maria L. Costantino, Stuart A. Cook, Ewan Birney and Declan P. O’Regan ()
Additional contact information
Hannah V. Meyer: Cold Spring Harbor Laboratory
Timothy J. W. Dawes: Imperial College London
Marta Serrani: University of Cambridge
Wenjia Bai: Imperial College London
Paweł Tokarczuk: Imperial College London
Jiashen Cai: Duke–National University of Singapore
Antonio Marvao: Imperial College London
Albert Henry: University College London
R. Thomas Lumbers: University College London
Jakob Gierten: University Hospital Heidelberg
Thomas Thumberger: Heidelberg University
Joachim Wittbrodt: Heidelberg University
James S. Ware: Imperial College London
Daniel Rueckert: Imperial College London
Paul M. Matthews: Imperial College London
Sanjay K. Prasad: Imperial College London
Maria L. Costantino: Politecnico di Milano
Stuart A. Cook: Imperial College London
Ewan Birney: European Bioinformatics Institute (EMBL-EBI)
Declan P. O’Regan: Imperial College London

Nature, 2020, vol. 584, issue 7822, 589-594

Abstract: Abstract The inner surfaces of the human heart are covered by a complex network of muscular strands that is thought to be a remnant of embryonic development1,2. The function of these trabeculae in adults and their genetic architecture are unknown. Here we performed a genome-wide association study to investigate image-derived phenotypes of trabeculae using the fractal analysis of trabecular morphology in 18,096 participants of the UK Biobank. We identified 16 significant loci that contain genes associated with haemodynamic phenotypes and regulation of cytoskeletal arborization3,4. Using biomechanical simulations and observational data from human participants, we demonstrate that trabecular morphology is an important determinant of cardiac performance. Through genetic association studies with cardiac disease phenotypes and Mendelian randomization, we find a causal relationship between trabecular morphology and risk of cardiovascular disease. These findings suggest a previously unknown role for myocardial trabeculae in the function of the adult heart, identify conserved pathways that regulate structural complexity and reveal the influence of the myocardial trabeculae on susceptibility to cardiovascular disease.

Date: 2020
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DOI: 10.1038/s41586-020-2635-8

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