Advancements in Early HCM Detection and Treatment Present New Opportunities

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A recent research led by UCL experts suggests that the combination of two distinct heart scan techniques may aid physicians in early detection of hypertrophic cardiomyopathy (HCM), a potentially fatal cardiac condition, even before conventional tests display any symptoms or indications.

Scientists find a way of addressing HCM at early stages

The study, presents a promising avenue for addressing the condition in its initial phases. The ability to identify HCM at a much earlier stage holds great potential for supporting clinical trials focused on gene therapies and pharmaceutical interventions to halt the progression of the ailment in susceptible individuals.

Researchers from UCL, University of Leeds, and Barts Heart Centre conducted a study on three groups including healthy individuals, those with existing HCM (Hypertrophic Cardiomyopathy), and individuals with an HCM-causing genetic mutation but no evident disease symptoms. They employed advanced heart scanning techniques – cardiac diffusion tensor imaging (cDTI) and cardiac MRI perfusion (perfusion CMR) whereby the former reveals the organization of heart muscle cells, while the latter detects issues with the small blood vessels that supply heart muscle.

In the scans, individuals with apparent signs of HCM exhibited abnormal heart muscle cell arrangement and a higher incidence of microvascular disease relative to healthy volunteers. Additionally, the scans successfully detected abnormal muscle cell structure and microvascular disease in those with a problematic gene but no symptoms or muscle thickening. Approximately 28% of these individuals had blood supply defects, allowing doctors to identify early signs of HCM development in patients’ hearts with greater precision.

First medication that slows HCM progression approved in Europe

Mavacamten, the first medication to slow progression of HCM, recently received approval in Europe. It allows doctors to minimize disease severity after muscle thickening and symptoms appear. Genetic therapies are also in development to intercept HCM development at an early stage and potentially prevent symptoms entirely.

Some clinics already use perfusion CMR to distinguish HCM from other muscle thickening causes. The combination of these innovative therapies along with cDTI and perfusion CMR scans offers the best opportunity for early treatment and prevention of HCM.

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