Cardiovascular diseases are the leading cause of death worldwide. According to estimates revealed by the WHO, 17.9 million people died from cardiovascular diseases in 2019, which represents 32% of deaths worldwide. Of these deaths, 85% were due to myocardial infarction or stroke. Risk factors for developing heart disease are age, being overweight, obesity, smoking, overconsumption of alcohol or even a lack of physical activity, but also genetics. And more precisely the shape of the human heart, reveals a new study published in Nature Communication. Ultimately, these discoveries could benefit millions of people at risk.
For their work, the researchers studied cardiovascular MRI images of more than 40,000 individuals from the UK Biobank to create 3D models of the ventricles. The UK Biobank is a large-scale biomedical database containing genetic and health information from half a million UK participants.
Thanks to their statistical analysis, the scientists were able to identify eleven shapes describing the main variations in the shape of the heart. After which, genetic analyzes allowed them to highlight 45 specific areas of the human genome linked to different heart shapes. Until now, 14 of these areas had never been identified as having an influence on cardiac characteristics.
“New perspectives on genetic risks”
This study is the first to examine the genetic basis of the right and left ventricles using advanced 3D machine learning imaging, which allowed researchers to analyze the shape of the heart in a comprehensive and multidimensional way, assures Queen Mary University (London, United Kingdom) in a press release.
Because until then, research focused mainly on the size and volume of specific heart chambers. Now, by examining the shape, researchers have been able to identify new genes associated with the heart and unveil biological pathways linking its structure to cardiovascular disease.
“This study provides new information about how we think about heart disease risk,” welcomes Patricia B. Munroe, professor of molecular medicine at Queen Mary and co-author of the study. “We have long known that the size and volume of the heart are important, but by examining its shape we are discovering new insights into genetic risks. This discovery could provide clinicians with valuable additional tools to predict disease earlier and more accurately. »
A potentially early and more personalized assessment
“This study lays an important foundation for exploring the genetics in both ventricles. The study confirms that combined cardiac fitness is influenced by genetics and demonstrates the utility of analyzing cardiac fitness in both ventricles to predict individual risk of cardiometabolic diseases in addition to established clinical measures,” adds Dr Richard Burns, statistical geneticist at Queen Mary.
Thus, these results could change the way cardiac risk is assessed. Genetic information linked to heart shape could provide a heart disease risk score, providing a potentially early and more personalized assessment for patients.
As a reminder, cardiovascular diseases constitute a group of disorders affecting the heart and blood vessels. This includes ischemic heart disease (which affects the blood vessels supplying the heart muscle), cerebrovascular disease (which affects the blood vessels supplying the brain), peripheral arterial disease (which affects the blood vessels supplying the arms and legs), heart disease rheumatic diseases (which affect the muscle and heart valves), congenital heart defects and, finally, deep vein thromboses and pulmonary embolisms.
Source: www.topsante.com
