Personalized heart condition diagnosis refines accuracy, especially for women.
A recent study has revealed significant gender differences in the way hypertrophic cardiomyopathy (HCM), a potentially fatal heart condition, is diagnosed. The research, conducted by University College London, shows that women may be overlooked when doctors apply traditional guidelines that don’t take into account natural differences in sex, body size, and age. The study also suggests that updating these guidelines could lead to more accurate diagnoses, especially for women, who may not always be diagnosed as readily as men.
HCM is a genetic condition that causes the heart’s muscular wall to thicken, which makes it harder for the heart to pump blood effectively. This condition can lead to serious complications, including arrhythmias, which can result in sudden cardiac arrest or even death. In the UK, about one in 500 people are affected by HCM, but until now, the majority of diagnoses have been made in men, even though the condition affects both sexes equally.
The traditional approach to diagnosing HCM relies heavily on measuring the thickness of the heart’s left ventricle wall. If the wall measures over 15 millimeters, a person is typically diagnosed with HCM. This threshold has been in place for 50 years, but researchers are beginning to see that it might not be suitable for everyone. Dr. Hunain Shiwani, who led the research, argued that the 15 mm threshold is outdated and doesn’t take into account factors like age, body size, and sex, which all influence heart muscle thickness.
The new method developed by the researchers uses a more personalized approach, adjusting the diagnostic threshold based on these factors. The researchers tested this updated approach with 1,600 patients who already had a clinical diagnosis of HCM. The results were striking. Women were diagnosed 20 percentage points more often when the new approach was applied. This suggests that many women who might have previously gone undiagnosed could now receive the proper attention and care.
To refine the approach further, the team used artificial intelligence (AI) to analyze MRI scans of healthy hearts. This tool, developed by the researchers, can measure heart wall thickness with greater precision and speed than a human could. It analyzed 5,000 MRI scans and helped set more accurate benchmarks for normal heart wall thickness based on variables like age, body size, and sex. With this data, the researchers were able to adjust the threshold for diagnosing HCM, making it higher for older or larger individuals and lower for younger or smaller ones, including women.
When they tested the new diagnostic criteria on over 43,000 participants in the UK Biobank, the results were promising. The new method led to a more balanced diagnosis rate between men and women. When the traditional threshold of 15 mm was used, only one in eight diagnosed individuals was a woman, and most of those diagnosed were taller, heavier, and older than the average person. However, when the new guidelines were applied, the results were more balanced, with 44% of the diagnoses being women.
This new personalized approach could also help prevent the misdiagnosis of people who do not have HCM. The updated method resulted in fewer individuals being diagnosed with the condition, which could reduce unnecessary treatments for people who don’t actually have the condition. The researchers also hope their findings will be used to update guidelines in both Europe and the U.S., making diagnosis more accurate for everyone.
For many, receiving a diagnosis of HCM can be life-changing, and timely identification is key to ensuring that people get the care they need. While the condition is treatable, it’s most effective when caught early. By updating outdated diagnostic standards and taking a more personalized approach, the study has the potential to save lives, particularly for women who might have been underdiagnosed in the past. The hope is that with better diagnostic methods, fewer people will be missed, and more individuals will be identified early enough to benefit from effective treatments.
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New study highlights gender differences in diagnosing heart condition
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