A groundbreaking study has uncovered the genetic link between heart shape and cardiovascular disease risk, offering new insights and transforming how clinicians can predict and treat heart disease.
An international team of researchers has unveiled a groundbreaking study demonstrating that the shape of the heart, influenced in part by genetics, may be a critical factor in predicting the risk of cardiovascular diseases. This pioneering research, conducted by experts from Queen Mary University of London, King’s College London, University of Zaragoza, University College London and Complexo Hospitalario Universitario A Coruña, is the first to use advanced 3D imaging and machine learning to examine the genetic basis of the heart’s left and right ventricles.
The study, published in the journal Nature Communications, breaks new ground by shifting the focus from traditional measures of heart size and volume to a more nuanced understanding of heart shape. By examining both ventricles simultaneously, the researchers have captured the intricate, multi-dimensional characteristics that could transform how cardiovascular disease risk is evaluated and understood.
“This study provides new information on how we think about heart disease risk,” co-author Patricia B. Munroe, a professor of molecular medicine at Queen Mary, said in a news release. “We’ve long known that size and volume of the heart matter, but by examining shape, we’re uncovering new insights into genetic risks. This discovery could provide valuable additional tools for clinicians to predict disease earlier and with more precision.”
Utilizing cardiovascular MRI images from over 40,000 participants from the UK Biobank, which contains genetic and health information from half a million UK individuals, the researchers constructed 3D models of the heart’s ventricles. Through rigorous statistical analysis, they identified 11 shape dimensions crucial to understanding variations in heart form.
The genetic analysis that followed revealed 45 specific genomic regions associated with different heart shapes, including 14 newly identified areas that had not previously been linked to heart traits.
“This study sets an important foundation for the exploration of genetics in both ventricles,” added Richard Burns, a statistical geneticist at Queen Mary. “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.”
Cardiovascular disease remains one of the leading causes of death globally and in the UK. The findings from this study hold the potential to revolutionize clinical practices by allowing for earlier and more precise risk evaluations. Genetic information related to heart shape can now contribute to a more refined risk score for heart disease, potentially leading to earlier interventions and personalized treatment plans.
The research not only opens new doors for understanding the genetic influences on the heart but also sets a significant precedent for future studies to integrate these findings into everyday medical practice. This breakthrough has the potential to benefit millions worldwide who are at risk of cardiovascular disease.