Study finds a better way to detect heart disease in women

People with a hidden heart condition may be at risk because current medical guidelines don't consider important personal differences. A new study is challenging a decades-old standard for diagnosing a heart disease that often goes unnoticed until it's too late.

Hypertrophic cardiomyopathy (HCM) affects about one in every 500 people. It can lead to dangerous heart rhythms, sudden cardiac arrest, and death.

This genetic condition thickens the heart muscle, making it harder for the heart to pump blood. For years, doctors have diagnosed it based on a single measurement—if the wall of the left ventricle is 15 millimeters thick or more, it's considered abnormal.

That method has saved lives. But now, scientists are pointing out its flaws. A recent study shows that this one-size-fits-all threshold may leave many people undiagnosed, especially women and smaller individuals.

In most cases, HCM is diagnosed by looking at the thickness of the wall in the heart’s main pumping chamber. For 50 years, the guideline has stayed the same: a wall thicker than 15 millimeters means there may be HCM. This cutoff doesn't change based on age, sex, or body size.

That’s a problem. Not all hearts are built the same. Women usually have smaller hearts. So, a thickened wall in a smaller heart might not reach the 15-millimeter mark, even if the person has HCM. Men, who often have larger hearts, might be more likely to meet the threshold—even when they don’t have the disease.

The data supports this concern. Currently, two out of every three people diagnosed with HCM are men. However, researchers now believe that men and women are just as likely to have the disease. Women may simply be slipping through the cracks of an outdated system.

Dr. Hunain Shiwani, who led the research at the UCL Institute of Cardiovascular Science, explained: “It is clear that this threshold, which is based on the results of studies from the 1970s, needs to be reconsidered. Having the same cut off for everyone regardless of age, sex or size completely ignores the fact that heart wall thickness is strongly influenced by these factors.”

To tackle this issue, the researchers developed a smarter and more individualized approach. They used artificial intelligence to study more than 5,000 MRI heart scans from healthy individuals. The AI tool measured heart wall thickness across people of different ages, sexes, and body sizes. From that, they created a range of normal values that reflect real differences in heart structure.

Instead of sticking to a single number, the new method adjusts the threshold depending on a person’s profile. For example, older or larger people might have a higher cutoff. Younger, smaller people, including many women, would have a lower one.

When this updated method was tested on 1,600 patients already diagnosed with HCM, it showed big improvements. Among women, detection rates jumped by 20 percentage points. That means one in five women who would have been missed before are now being recognized as having the disease.

Dr. Shiwani added: “Our research provides a long-overdue update, showing that a personalised approach improves the accuracy of diagnosis. Effective treatments for HCM are starting to be used for the first time, making it more important than ever that we can correctly identify those who need them.”

To see how the new approach works in the wider population, the researchers applied both the old and new methods to more than 43,000 participants from a health database. Using the old rule, only one out of every eight people flagged as having possible HCM was a woman. Also, the flagged individuals were typically older, taller, and heavier than average.

With the new personalized rules, the number of people flagged actually dropped—suggesting fewer false positives. But something else changed too: nearly half of the people identified (44%) were women. That’s far closer to what you’d expect, given that HCM affects men and women equally.

The goal isn’t just to catch more cases. It’s also about avoiding mistakes. A wrong diagnosis can change someone’s life. It could mean undergoing needless tests, living with anxiety, or taking medications that aren’t necessary.

Dr. Sonya Babu-Narayan, a clinical cardiologist with the British Heart Foundation, emphasized the importance of this balance: “A diagnosis is itself a life changing event and we should be making every effort to prevent misdiagnosing people.”

She added, “By updating the traditional one-size-fits-all approach, this study redefines abnormal heart wall thickness, a key contributor to the diagnosis of hypertrophic cardiomyopathy. As a result, more women and small individuals were identified who would otherwise be underdiagnosed.”

This research could lead to big changes in how doctors around the world identify and treat HCM. The scientists now want to make sure their new guidelines work with echocardiogram scans—not just MRIs—since echocardiograms are more common in clinics.

They are also working on ways to include other important factors like race and ethnicity in future versions of the diagnostic tool. The ultimate aim is to help doctors make better decisions for every patient, no matter their shape or size.

The research team hopes these updated guidelines will soon be adopted by heart specialists across Europe and North America. Personalized thresholds could become the new normal, leading to fairer and more accurate diagnoses.

As Dr. Babu-Narayan concluded, “This more personalised approach to defining abnormal heart muscle thickness heralds a new era for accurate diagnosis for patients and families affected by hypertrophic cardiomyopathy.”

Research findings are available online in the Journal of the American College of Cardiology.

Note: The article above provided above by The Brighter Side of News.

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