New Guidelines Aim to Improve Diagnosis of Heart Condition in Women

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A recent study has revealed significant shortcomings in the diagnosis of hypertrophic cardiomyopathy (HCM), particularly in women, due to outdated medical guidelines. HCM, a genetic heart condition that affects about one in 500 people, occurs when the heart's muscular wall thickens, potentially leading to cardiac arrest and sudden death.

Currently, the diagnosis of HCM is based on a uniform threshold of 15mm for heart wall thickness, a standard established over 50 years ago. This approach does not consider differences in sex and body size, resulting in a disproportionate number of diagnoses among men, who make up two-thirds of HCM patients. Researchers funded by the British Heart Foundation have found that a new personalized methodology that accounts for age, sex, and size can enhance diagnosis rates, especially for women.

In a study involving 1,600 HCM patients, this innovative method, which utilized artificial intelligence to analyze thousands of heart scans, improved the identification of the condition in women by 20 percentage points. Further testing on data from the UK Biobank, which includes over 43,000 individuals, indicated a reduction in misdiagnoses and a more balanced identification rate, with women constituting 44% of those diagnosed.

Dr. Hunain Shiwani, a clinical research fellow leading the study, emphasized the need to revise the existing diagnostic criteria, stating that a single cutoff does not accommodate the natural variations in heart structure among different demographics. Dr. Sonya Babu-Narayan from the British Heart Foundation highlighted the importance of accurate diagnosis, noting that underdiagnosed individuals miss out on potential life-saving treatments.

These findings, published in the Journal of the American College of Cardiology, underline the urgent need to update diagnostic protocols to ensure all individuals, regardless of sex or body size, receive appropriate medical evaluation for this serious condition.

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