New study highlights gender differences in heart disease diagnosis

A new study led by researchers at UCL (University College London) finds that guidelines that do not take into account natural differences in gender and body size are making women less likely to be diagnosed with potentially fatal heart conditions. There is a possibility that it may have been overlooked.

This study Journal of the American College of Cardiology and The paper, funded by the British Heart Foundation, details how current guidelines could change after new personalized approaches were shown to improve diagnostic accuracy. Masu.

When we tested our latest approach on 1,600 patients with clinically diagnosed hypertrophy. cardiomyopathy (HCM), researchers found that this was particularly beneficial for women, increasing their discernment by 20 percentage points.

The new method takes into account people's age, gender and body size to determine whether their heart muscle is dangerously large. Not only will it prevent people from falling through the cracks, but it will also reduce the number of people who are misdiagnosed with HCM.

Approximately 1 in 500 people in the UK have HCM. HCM is a genetic disorder in which the muscular wall of the heart thickens, making it difficult for the heart to pump blood around the body. It can cause life-threatening problems such as abnormal heart rhythms, which can lead to cardiac arrest and sudden death.

Typically, two-thirds of people currently diagnosed with HCM are men, but researchers say women are just as likely to suffer from the condition. There is no single gold standard test used to diagnose HCM. Your doctor will review the results of various tests and scans. The most important of these involves measuring the wall thickness of the left ventricle, the heart's main pumping chamber.

For 50 years, the standard for diagnosing HCM this way was 15 millimeters for everyone. If the muscle is thicker than this, the patient likely has HCM.

Dr Hunain Siwani (UCL Institute of Cardiovascular Science and St Bartholomew's Hospital), who led the study, said: 'It is clear that this threshold, based on findings from the 1970s, needs to be reconsidered. Applying the same cutoff value to everyone regardless of age, gender, and body size completely ignores the fact that the thickness of the heart wall is strongly influenced by these factors.

“Our study provides a long-awaited update and shows that a personalized approach improves diagnostic accuracy. Effective treatments for HCM are beginning to be used for the first time. “Now more than ever, it is important to be able to accurately identify patients who need treatment.” ”

The research team used the AI ​​tools they developed to analyze MRI heart scans in much less time and with greater accuracy than humans. The tool performed 5,000 MRI scans of healthy hearts and measured the thickness of the left ventricular wall in each. From these data, the researchers were able to determine normal ventricular wall thickness, measured by body surface area, in people of different ages, genders, and body sizes.

This allows us to set thresholds for abnormal wall thickness indicative of HCM, depending on a person's age, gender, and body size. The threshold was set higher if the person was older, larger, or male, and lower if the person was younger, smaller, or female.

After testing the accuracy of the new threshold in a group of HCM patients, the researchers applied it, similar to the current 15 mm cutoff, to a group of more than 43,000 participants in the UK Biobank.

Only one of the eight people identified as having possible HCM using current thresholds was female. The people identified were much taller, heavier, and older than the population average.

When the new personalized threshold was applied instead, the total number of people identified decreased, suggesting fewer misdiagnoses. Importantly, there was a much more even split between men and women, with women accounting for 44% of those identified. This is a more realistic finding because HCM should affect men and women equally.

By incorporating other important factors such as ethnicity and ensuring that the new thresholds work with echocardiogram scans that are more commonly used in clinical practice, the research team is able to tailor guidelines to individuals. We hope to make it available to physicians across Europe and the United States as soon as possible.

Hypertrophic cardiomyopathy is a serious and potentially life-threatening disease, and if it goes undiagnosed, people who could potentially benefit from new and effective treatments can slip through the cracks. there is. At the same time, the diagnosis itself is a life-changing event and we need to make every effort to prevent people from being misdiagnosed.

This study redefined abnormal heart wall thickness as a key factor in the diagnosis of hypertrophic cardiomyopathy by updating the traditional one-size-fits-all approach. As a result, more women and smaller people were identified who would otherwise have been underdiagnosed.

Although other diagnostic factors are important, this more individualized approach to defining abnormal myocardial thickness heralds a new era of accurate diagnosis for patients and families with hypertrophic cardiomyopathy. . ”

Dr Sonya Babu Narayan, Clinical Director, British Heart Foundation, Clinical Cardiologist