A new UCL-led study finds that current heart disease diagnosis guidelines may miss women due to outdated thresholds. The personalized approach proposed in the study increases diagnostic accuracy, especially for women, demonstrating the potential for significant health care improvements.
Women may be missing diagnoses of a potentially lethal heart condition due to existing medical guidelines that fail to consider natural differences in sex and body size, according to new research led by University College London (UCL). This study, published in the Journal of the American College of Cardiology, offers a new personalized approach that significantly enhances diagnostic accuracy.
The research team tested their innovative methodology on 1,600 patients with confirmed hypertrophic cardiomyopathy (HCM) and discovered that it was particularly effective for women, boosting identification rates by 20 percentage points.
HCM is a genetic disorder characterized by the thickening of the heart’s muscular wall, which can impede blood flow and lead to severe complications such as cardiac arrest. Although approximately one in 500 people in the UK have HCM, diagnosis rates have historically skewed towards men.
“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,” Dr. Hunain Shiwani from UCL’s Institute of Cardiovascular Science and St Bartholomew’s Hospital, who led the study, said in a news release.
By tailoring diagnostic criteria to consider a person’s age, sex and body size, the researchers aim to improve early detection and reduce the incidence of misdiagnoses.
For decades, a uniform threshold of 15 mm for left ventricle wall thickness has been the benchmark for diagnosing HCM. However, this standard was derived from studies conducted in the 1970s and fails to account for individual variability.
The researchers leveraged artificial intelligence to analyze 5,000 MRI heart scans, developing new, personalized thresholds for what constitutes abnormal wall thickness.
Applying these refined criteria to over 43,000 participants in the UK Biobank, the researchers observed that the personalized approach not only lowered the overall number of suspected cases but also identified a gender balance in diagnoses — 44% of those flagged with potential HCM were women. This is a striking improvement, considering that under the previous uniform threshold, only one in eight diagnosed individuals was female.
The new framework not only promises to enhance accuracy in diagnosing this critical condition but also to extend its benefits across different ethnicities and clinical settings. As echocardiograms are more prevalent in routine clinical practice, the team aims to adapt the guidelines to these scans, broadening the potential for immediate application.
“Hypertrophic cardiomyopathy is a severe, potentially life-threatening condition, and missed diagnosis means people that might benefit from new and effective treatments could slip through the net,” added Dr. Sonya Babu-Narayan, clinical director at the British Heart Foundation and clinical cardiologist. “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.”
This sophisticated approach signals a transformative shift in medical diagnostics, ensuring more equitable and precise identification of HCM, potentially saving numerous lives.