Women are being overlooked in the diagnosis of a potentially fatal heart condition that affects one in 500 people, according to the British Heart Foundation. The charity-funded research revealed that current guidelines for diagnosing hypertrophic cardiomyopathy (HCM) are insufficient.
HCM is a genetic disorder that thickens the heart’s muscular wall, making it more difficult for the heart to circulate blood throughout the body. This condition can be life-threatening, causing abnormal heart rhythms that can lead to cardiac arrest and sudden death.
Despite two-thirds of HCM diagnoses being men, researchers believe women are equally likely to have the condition. HCM is diagnosed using various tests and scans, such as measuring the thickness of the left ventricle’s wall, the heart’s main pumping chamber.
For the past half-century, a thickness of 15mm has been the threshold for diagnosing HCM. If the muscle is thicker than this, the patient is considered likely to have HCM.
However, researchers found this method inadequate as it does not account for natural variations in sex and body size. The study, published in the Journal of the American College of Cardiology, examined 1,600 HCM patients using a new method that considers age, sex, and size.
The new method, which involved AI analysing thousands of heart scans, was particularly beneficial for women, increasing HCM identification by 20 percentage points.
Further analysis on data from over 43,000 individuals in the UK Biobank has been conducted, where new personalised thresholds indicated a reduced number of people being flagged with HCM, implying fewer false positives. This adjustment also showed a more balanced identification between genders, with women accounting for 44 per cent of those detected, supporting the notion that females have historically been underdiagnosed.
Leading the study, Dr Hunain Shiwani, clinical research fellow at University College London and St Bartholomew’s Hospital, pointed out that modern understandings necessitate change. “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,” he explained.
“Our research provides a long-overdue update showing that a personalised approach improves the accuracy of diagnosis.”
He further stressed the urgency of precise detection, saying, “Effective treatments for HCM are starting to be used for the first time, making it more important than ever that we can correctly identify those who need them.”
Backing this stance, Dr Sonya Babu-Narayan, clinical director at the British Heart Foundation and a clinical cardiologist, weighed in with cautionary advice: “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.”
She emphasised both ends of the spectrum, adding, “At the same time, a diagnosis is itself a life-changing event and we should be making every effort to prevent misdiagnosing people.”
“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.”
“As a result, more women and small individuals were identified who would otherwise be underdiagnosed.”
Looking for more from MyLondon? Subscribe to our daily newsletters here for the latest and greatest updates from across London.