Enhanced Method Streamlines Heart Disease Diagnosis in Females
In a groundbreaking study conducted by researchers at University College London, a new method for diagnosing Hypertrophic Cardiomyopathy (HCM) has been developed, promising to transform the way this genetic condition is identified and treated.
Traditionally, the diagnosis of HCM has relied heavily on measuring the thickness of the heart's left ventricle wall, with a threshold of 15 millimeters. However, this approach has been criticized for its lack of consideration for factors such as age, body size, and sex.
The new method, on the other hand, uses a more personalized approach, adjusting the diagnostic threshold based on these factors. Artificial Intelligence (AI) was employed to analyze MRI scans of healthy hearts, developing a tool that can measure heart wall thickness with greater precision and speed.
The new method was tested with 1,600 patients who already had a clinical diagnosis of HCM, and the results showed 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. With the new approach, 44% of the diagnoses were women.
The study, which was conducted on over 43,000 participants in the UK Biobank, has the potential to save lives, particularly for women who might have been underdiagnosed in the past. Dr. Hunain Shiwani, who led the research, argues that the 15 mm threshold is outdated and doesn't take into account factors like age, body size, and sex.
Key updates in the new diagnostic framework include variable LV wall thickness thresholds adjusted for sex (men vs. women), body surface area, and age to improve diagnostic accuracy. Advanced imaging techniques such as cardiac magnetic resonance (CMR) are also integrated to further assess myocardial structure when echocardiographic findings are borderline or to evaluate apical forms of HCM that might be missed otherwise.
The use of electrocardiogram (ECG) abnormalities, which are present in about 95% of HCM patients, as a screening tool is another significant development. Pathological Q-waves, ST-segment depression, and T-wave inversions in specific leads raise suspicion of HCM, with care to distinguish these from benign ECG changes seen in athletes.
Furthermore, consideration of additional diagnostic data including genetic testing for sarcomeric mutations, which informs diagnosis and family screening, and biomarkers such as NT-proBNP and cardiac troponins to assess disease progression and risk, is now part of the diagnostic process.
Overall, the diagnostic framework now advocates a multifactorial, personalized approach that incorporates clinical, electrocardiographic, imaging, genetic, and biomarker data, while explicitly incorporating sex, age, and body size into the evaluation criteria for left ventricular hypertrophy (LVH). This approach seeks to reduce underdiagnosis in women and smaller individuals and improve early identification and risk stratification.
These advances are reflected in the latest international cardiology publications and guidelines updated through 2025, ensuring a nuanced and equitable diagnostic practice for HCM. With better diagnostic methods, more individuals will be diagnosed with HCM in a timely manner, potentially leading to earlier treatment and better outcomes.
In this new diagnostic framework for Hypertrophic Cardiomyopathy (HCM), the traditional 15 mm threshold for identifying left ventricle wall thickness is being replaced with variable thresholds that take into account factors like sex, body surface area, and age to improve diagnostic accuracy. This personalized approach may lead to improved detection of HCM in both women and smaller individuals who might have been previously underdiagnosed. Furthermore, this updated diagnostic practice is incorporating advanced imaging techniques, electrocardiogram abnormalities, genetic testing, and biomarkers to offer a more comprehensive approach to HCM diagnosis and treatment in the field of medical-conditions related to health-and-wellness, particularly for women's health and cardiovascular health.
