Heart Shape Genetics to Cardiovascular Disease Risk

Mount Sinai study finds 45% of heart attack patients had low ASCVD risk scores just days before events. Current tools fail to identify many at-risk individuals.

A groundbreaking multi-national study has revealed that genetics play a role in determining the shape of the heart. This discovery could lead to a new understanding of cardiovascular disease risk. Researchers from leading universities in the UK and Spain have developed an innovative approach to assessing heart health. They show that analyzing the shape of the heart’s left and right ventricles through 3D imaging and machine learning provides more detailed information. This analysis can offer a more comprehensive picture of cardiovascular risk. This method surpasses traditional heartvolume or size measurements alone.

Scientists from Queen Mary University of London, King’s College London, and other institutions conducted this study. It is the first to explore the genetic basis of heartshape by examining both ventricles. Prior research had focused on heartsize, volume, and individual chambers. The team’s advanced approach captured a more nuanced view. It provided a multi-dimensional perspective of the heart’s structure. This approach has enabled researchers to identify novel genes linked to heartshape. They now understand how these genetic factors are linked to cardiovascular health.

WHY HEART SHAPE MATTERS IN PREDICTING DISEASE RISK


Cardiovascular disease remains a leading cause of death worldwide. Understanding the genetic basis of heartshape will transform how clinicians assess and predict heartdisease. Dr. Patricia B. Munroe, a co-author of the study and Professor of Molecular Medicine at Queen Mary, noted, “We’ve long known that the heart’s size and volume are important. By examining shape, we’re uncovering new genetic risks. These risks give valuable tools for clinicians to predict disease earlier and more precisely.”

Researchers examined the shape of both ventricles together. They identified dimensions in the heart’s shape that correspond with specific genetic markers. This correspondence provides a potential “risk score.” This score could one day help in personalizing heart disease assessment. A person’s genetic predisposition to certain heart shapes could eventually be used for more precise risk estimation. This could help in developing cardiovascular conditions with more accuracy.

HARNESSING DATA FROM UK BIOBANK AND ADVANCED IMAGING TECHNOLOGY


The team used MRI images from over 40,000 individuals within the UK Biobank. This is a large-scale biomedical resource with genetic and health data on 500,000 UK participants. They created detailed 3D models of heart ventricles. Researchers used sophisticated statistical analyses. They identified 11 dimensions that describe key variations in heart shape. They subsequently linked 45 genetic regions to different heart shapes. Intriguingly, 14 of these genetic areas had not been previously associated with heart traits. This marks a significant leap in genetic knowledge related to cardiovascular health.

Dr. Richard Burns, a statistical geneticist at Queen Mary, highlighted the importance of this discovery: “This study confirms that heart shape is influenced by genetics. It also demonstrates the potential of cardiac shape analysis to predict risk of cardiometabolic diseases.”

IMPLICATIONS FOR CLINICAL PRACTICE AND CARDIOVASCULAR RISK ASSESSMENT


This research holds promising implications for clinical practice, particularly for individuals at high risk for cardiovascular disease. Genetic insights from heart shape could be integrated into current clinical risk assessment frameworks. This integration offers a more tailored approach to managing heart health. Unlike conventional methods, which primarily assess factors like blood pressure, cholesterol, and heartsize, heart shape could be considered a genetic factor. Incorporating this factor could lead to earlier interventions. It might also result in more precise interventions.

FUTURE DIRECTIONS IN GENETIC HEART HEALTH RESEARCH


This study sets a new foundation for research into the genetic influences on heart shape. It paves the way for more extensive studies. These studies focus on how genetic markers interact with lifestyle and environmental factors to impact heart health. As researchers continue to explore the genetic pathways involved in shaping the heart’s ventricles, there may be opportunities to develop targeted therapies and preventive measures based on an individual’s genetic profile.

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