A recent study has shown that the shape of the heart is partly determined by genetic factors and may help in assessing the risk of cardiovascular diseases.
A recent multi-national study has shown that the shape of the heart is partly determined by genetic factors and may help in assessing the risk of cardiovascular diseases.
Researchers from Queen Mary University of London, King’s College London, University of Zaragoza, University College London, and Complexo Hospitalario Universitario A Coruña are the first to investigate the genetic factors affecting the left and right ventricles of the heart using cutting-edge 3D imaging and machine learning technologies.
Previous studies mainly concentrated on the size and volume of the heart and its individual chambers. By analyzing both ventricles together, the researchers could explore the more complex, three-dimensional features of the heart shape.
This innovative approach to studying heart shape has led to the identification of new heart-related genes and enhanced our understanding of the biological mechanisms that connect heart shape to cardiovascular diseases.
Cardiovascular diseases rank among the top causes of death in the UK and worldwide. The insights from this study could transform how the risk of heart disease is assessed. Genetic data linked to heart shape can yield a risk score for heart disease, allowing for potentially earlier and more personalized evaluations in clinical practice.
“This study offers new insights into our understanding of heart disease risk,” stated Patricia B. Munroe, Professor of Molecular Medicine at Queen Mary and co-author of the research. “While we’ve always recognized the importance of heart size and volume, examining the shape is unveiling new perspectives on genetic risks. This discovery could be an invaluable resource for clinicians to identify diseases sooner and with greater accuracy.”
The research team utilized cardiovascular MRI scans from over 40,000 people participating in the UK Biobank, a comprehensive biomedical database that gathers genetic and health data from half a million participants in the UK, to construct 3D models of the ventricles. Through statistical evaluation, they identified 11 shape dimensions representing the main variations in heart shape.
Further genetic analysis uncovered 45 specific regions in the human genome associated with different heart shapes, with fourteen of these areas previously unknown to impact heart characteristics.
“This study lays a crucial groundwork for the investigation of genetics in both ventricles,” expressed Dr. Richard Burns, Statistical Geneticist at Queen Mary. “It confirms that the overall shape of the heart is influenced by genetic factors and demonstrates the potential of analyzing cardiac shape in both ventricles for predicting individual risks of cardiometabolic diseases alongside established clinical evaluations.”
This research heralds a promising new phase in understanding the genetic influences on the heart and paves the way for future studies on how these findings can be incorporated into clinical settings, ultimately aiding millions who are at risk for heart disease.
