A new, multinational study found that the shape of the human heart, a tale of genetic factors, is a good predictor of the risk for cardiovascular disease. According to researchers from Queens Mary University of London, the genetic structure of the heart’s shape may contribute to heart health. This is the first study performed using 3D structural imaging and machine learning to understand the genetic link between heart shapes.
In prior research, the investigative focus had been on the size and volume of individual heart chambers, restricting scientific comprehension of just how structural discrepancies may affect disease risk. By changing focus to heart shape, this work has discovered new heart-associated genes and elucidated biological pathways to the cardiovascular by linking the heart’s shape to its health.
What’s different is that we’ve long known that the size and volume of the heart matter, but by looking at its shape, we’re uncovering new understandings about genetic risk. This discovery might add new valuable tools for clinicians to predict disease earlier and with greater precision.
To create 3D models of the ventricles, the team used cardiovascular MRI images from more than 40,000 individuals from UK Biobank, a large-scale biomedical database and research resource including genetic and health information from more than half a million U.K. individuals. Using statistical analysis, the researchers identified 11 shape dimensions that provide the most comprehensive description of the key variations in heart shape. Later, genetic analysis pinpointed 45 distinct points on the human genome seen to be associated with different heart shapes. Two of these areas had not previously been known to influence heart traits while an additional 14 had not previously been linked to heart traits.
Statistical geneticist Dr. Richard Burns at Queen Mary said, “This study lays the foundations for looking at genetics in both ventricles.” “Combined cardiac shape is determined by genetics and demonstrates the utility of cardiac shape-analysis in both ventricles for prediction of individual risk of cardiometabolic diseases and established clinical measures,” the study confirms.
These findings may change how cardiac disease risks are assessed. Providing early, that is, before many years have passed, and more tailored, in terms of heart disease risk prediction, genetic information associated with heart shape may contain a risk score. Now we have an exciting new chapter on how genetics affect the heart, and that will lead to other studies on how you are genetics-wise, could be put into clinical practice and benefit millions at risk for heart disease.
Reference: Burns, R., Young, W.J., Aung, N. et al. Genetic basis of right and left ventricular heart shape. Nat Commun 15, 9437 (2024). https://doi.org/10.1038/s41467-024-53594-7
