Key points from article :
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition where the heart's muscular wall thickens, making it difficult for the heart to pump blood. It affects 1 in 500 people and can lead to sudden cardiac arrest and death.
Research funded by the British Heart Foundation revealed that current diagnostic guidelines for HCM are outdated, largely based on studies from the 1970s. These guidelines don’t account for natural differences in sex and body size. The study, led by Dr. Hunain Shiwani from University College London, involved 1,600 patients with HCM and examined the heart scans using a new method, factoring in age, sex, and size.
The research found that the standard threshold of 15mm for diagnosing HCM was inadequate and resulted in missed diagnoses, especially in women. With the new approach, which included artificial intelligence to analyze heart scans, the identification of HCM in women increased by 20%. This new method was further validated by testing over 43,000 people from the UK Biobank, where it showed a more accurate identification of HCM cases and fewer misdiagnoses. Additionally, women made up 44% of the identified cases, addressing the concern that women had previously been underdiagnosed.
The study suggests that using a personalized approach to diagnosis, rather than a one-size-fits-all threshold, leads to more accurate results. This approach considers individual factors such as body size and sex, which can significantly influence heart wall thickness. By applying these personalized thresholds, the overall identification of HCM cases was lower, suggesting fewer false positives. The study highlights that with new, more effective treatments for HCM becoming available, accurate diagnosis is more important than ever.
Dr. Shiwani emphasized that the old threshold, based on outdated research, needed a reassessment. He stated that the new personalized approach improves the accuracy of diagnosis and ensures that more individuals receive the appropriate treatment. Dr. Sonya Babu-Narayan from the British Heart Foundation added that HCM is a potentially life-threatening condition and missed diagnoses could prevent people from benefiting from effective treatments.
The findings were published in the Journal of the American College of Cardiology. The study underscores the importance of updating medical practices to reflect modern understanding and to ensure better health outcomes, especially for women and individuals with smaller body sizes. The researchers believe this shift will reduce underdiagnosis and improve treatment opportunities for many affected by HCM.
