Study links heart shape to genetic risk of cardiovascular disease

A new multinational study has revealed that the shape of the heart is partly influenced by genetics and may help predict the risk of cardiovascular disease.

Researchers from Queen Mary University of London, King’s College London, University of Zaragoza and University College London, as well as Complexo Hospitalario Universitario A Coruña are the first to examine the genetic basis of the heart’s left and right ventricles using advanced 3D imaging and machine learning.

Previous research has focused primarily on the size and volume of the heart and specific chambers. By studying both ventricles together, the team was able to capture the most complex, multidimensional aspects of the heart’s shape.

This new approach to shape exploration led to the discovery of new heart-related genes and provided a better understanding of the biological pathways linking heart shape to cardiovascular disease.

Cardiovascular disease is one of the leading causes of death in the UK and worldwide. The findings of this study could change the way heart disease risk is assessed. Genetic information related to heart shape can provide a risk score for heart disease, potentially offering earlier and more tailored assessment in clinical settings.

This study provides new insights into how we think about heart disease risk. We’ve long known that heart size and volume matter, but looking at shape is revealing new insights into genetic risks. This discovery could provide valuable additional tools for clinicians to predict disease earlier and more accurately.”

Patricia B. Munroe, Professor of Molecular Medicine at Queen Mary and co-author of the study

The team used cardiovascular MRI images from more than 40,000 people from the UK Biobank, a large-scale biomedical database and research resource containing genetic and health information from half a million UK participants, to create 3D models of the ventricles. Through statistical analysis, they identified 11 shape dimensions that describe the primary variations in heart shape.

Subsequent genetic analysis found 45 specific regions in the human genome associated with different heart shapes. Fourteen of these regions were not previously known to affect heart characteristics.

“This study lays an important foundation for exploring genetics in both ventricles,” said Dr Richard Burns, Statistical Geneticist at Queen Mary. “The study confirms that combined heart shape is influenced by genetics and demonstrates the utility of heart shape analysis in both ventricles to predict individual cardiometabolic disease risks alongside established clinical measures.”

This research marks an exciting new chapter in understanding how genetics affects the heart and opens the door to further studies on how these findings could be incorporated into clinical practice, ultimately benefiting millions of people at risk of heart disease. ailments.