revolutionary 3D Heart Models Reveal Genetic Links to Cardiovascular Health
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The simple heart symbol (♥) belies the organ’s intricate complexity. A groundbreaking study, led by international scientists, has produced over 40,000 three-dimensional heart models, each uniquely shaped and reflecting individual genetic predispositions. This research, utilizing magnetic resonance imaging (MRI) data, links heart shape and genetics to cardiovascular risks, offering unprecedented insights into heart health.
The study, published in Nature Communications, reveals a surprising correlation: more spherical heart shapes are associated with a higher risk of atrial fibrillation.
“For each individual, we created a complete representation of their heart, including both the left and right ventricles, and in diastole, with the heart relaxed after contraction,” explains Patricia B. Munroe, professor of molecular medicine at Queen Mary University of London and a lead author of the study.This level of detail surpasses previous research,which focused on simpler measurements.
“No one had made a three-dimensional representation like this,” adds Julia Ramírez,a researcher at the University of Zaragoza and another lead author. The team leveraged data from the UK Biobank, a massive database containing health and genetic information from half a million British participants, to create these detailed models.
The researchers digitally segmented 40,000 MRI heart scans, extracting key measurements and representing each heart’s shape using 11 mathematical coordinates. these coordinates capture size, orientation, sphericity, and thickness, providing a comprehensive, albeit abstract, representation of the heart’s structure. This goes beyond the typical MRI parameters cardiologists use, such as ventricle volume and myocardial thickness.
While visualizing these 11-dimensional models is challenging, the study highlights the captivating journey of how the heart symbol evolved. it’s origins trace back to ancient Cyrene (modern-day Libya), where coins depicted silphium seeds – from a now-extinct plant – in a heart-like shape. The plant, associated with Aphrodite, had various uses, including as an aphrodisiac and even a contraceptive.
Unraveling the Genetic Code of Heart Shape
The researchers then delved into the genetic basis of heart shape. “Essentially, we asked the question: Are these 11 major components heritable? And the answer was yes,” explains Munroe. their analysis identified 45 DNA regions linked to heart shape. While some were already known, 14 were entirely new discoveries.
“What these genes are doing, their function, we still don’t know. In the article, we highlight some of the genes, but these 14 had never been associated with any cardiac disease or trait, not even with the heart. So, it opens up a whole new area of biology,” says Ramírez, emphasizing the potential for future research.
This research has significant implications for understanding and perhaps preventing cardiovascular diseases. The detailed 3D models and the identification of novel genes associated with heart shape pave the way for personalized medicine approaches, tailoring treatments to individual genetic predispositions and heart morphology.
says Munroe.“It was known that genetics influenced simple parameters — such as how thick your ventricle is or how high it is indeed — but not that it defined the entire morphology in such a detailed way. This is the first time,” adds Ramírez. Since the researchers also had information on the participants’ health history, they analyzed who had developed certain diseases and what types. “This way, we were able to close the circle between the genetic signal, changes in the morphology of the heart, and the development of later diseases,” Ramírez explains.
the team found that smaller hearts are associated with a higher risk of diabetes, confirming previous studies that pointed to the same finding. “As for sphericity, we see that people with a more spherical heart appear to be at a higher risk of atrial fibrillation. There are other associations, but they are not as strong. This confirms that the relationship between heart shape and cardiovascular disease is significant,” Munroe says.
“We now know that genetic information can be used to determine if someone has an abnormal heart that predisposes them to risk, offering a more affordable screening method,” says Ramírez. “Fifteen years ago, I would have said no, as genetic screening was expensive, but now it’s much cheaper than an MRI.”
For Munroe, this study “provides valuable information to what is measured in clinical settings by conventional measures.” She explains: “These new shape measures are linked to disease outcomes, so it’s clear they are important.”
one commonly used indicator is the left ventricular ejection fraction, which relates to the heart’s pumping capacity.The British researcher explains that her shape models “can provide more insight to better predict individuals at risk. Though, at this stage, we are still in the research phase. Perhaps in the future, some of these shape components will be critically important for [diagnosing] certain diseases. We don’t know yet. But it contributes to the growing knowledge of biomarkers that could aid in predicting cardiovascular risk.”
In search of clinical use
As a next step, the team is examining resonance images recorded during systole, when the heart contracts. This approach is expected to provide more genetic and morphological information, which has yet to be published.
For Ana García Álvarez, Head of the Cardiology Service at the Hospital Clínic de Barcelona and the Translational Research group on Heart Failure and Pulmonary Hypertension at the National centre for Cardiovascular Research, who was not involved in the study: “The originality of this work lies in its integrated approach to cardiac structure. They have a very large cohort and integrate the sophistication of defining cardiac typologies with magnetic resonance imaging, and link that data to the entire genome. What’s fascinating is whether these genetic variants could predispose me to higher cardiovascular risk, which I can then prevent. And, of course, we’re still somewhat far from this goal.”
According to the researcher,while genetics play a role in cardiovascular health, lifestyle factors have a much greater impact. “in my experience, 80% of cardiovascular health is influenced by the habitat, and 20% by genetics, although this obviously varies,” says García Álvarez. “We must recommend a healthy lifestyle to everyone: we should all exercise, avoid smoking, and manage our cholesterol levels.”
“Perhaps some of the 14 genes linked to heart shape will prove to have a significant impact in the future that could be treated,” adds the cardiologist. “It’s also possible they will have no prognostic value. This is what we need to continue investigating.”
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