A recent international study found that genetics plays a role in the architecture of the heart and might be used to predict the risk of cardiovascular illnesses.
Researchers from Queen Mary University of London, King’s College London, University College London, University of Zaragoza, and Complexo Hospitalario Universitario A Coruña are the first to use machine learning and advanced 3D imaging to investigate the genetic basis of the left and right ventricles of the heart.
Previous studies mostly concentrated on the size, volume, and individual chambers of the heart. By examining both ventricles simultaneously, the team was able to capture the heart’s more complex, multifaceted form.
This novel method of investigating shape has improved our knowledge of the molecular processes connecting heart shape to cardiovascular illness and resulted in the identification of new genes linked to the heart.
One of the main causes of death in the UK and around the world is cardiovascular disease. The results of this study may alter the way that the risk of heart disease is assessed. A risk score for heart disease can be derived from genetic data pertaining to heart shape, thereby enabling earlier and more individualized evaluation in clinical settings.
This study offers fresh insights into our understanding of the risk of heart disease. Although we’ve long known that the heart’s size and volume are important, we’re learning more about genetic risks by looking at the heart’s shape. This finding may give doctors useful new resources to help them make more accurate and early disease predictions.
Patricia B. Munroe, a Queen Mary molecular medicine professor and study co-author
The scientists created 3D models of the ventricles using cardiovascular MRI images from more than 40,000 people from the UK Biobank, a comprehensive biological database and research resource that contains genetic and health data from half a million UK participants. They discovered 11 shape characteristics that best capture the main variances in heart shape through statistical analysis.
45 distinct regions of the human genome were connected to various heart morphologies by further genetic study. It was previously unknown that 14 of these regions influenced cardiac characteristics.
Dr. Richard Burns, a statistical geneticist at Queen Mary, stated, “This study sets an important foundation for the exploration of genetics in both ventricles” “The study confirms that combined cardiac shape is influenced by genetics, and demonstrates the usefulness of cardiac shape analysis in both ventricles for predicting individual risk of cardiometabolic diseases alongside established clinical measures.”
In addition to opening the door to more research on how these findings could be applied in clinical practice, this study represents an exciting new chapter in our understanding of how genetics affect the heart and could ultimately help millions of people at risk of heart disease.