New research funded by the British Heart Foundation has unveiled a development in the field of medical technology: advanced scans that can detect hypertrophic cardiomyopathy (HCM) before any symptoms appear. The study, published in the journal Circulation, offers hope for early intervention and improved treatment strategies for individuals at risk of this inherited heart condition.

Hypertrophic cardiomyopathy affects approximately 1 in 500 people in the UK and is characterized by the thickening of the heart’s muscular walls, leading to impaired blood pumping ability. As a leading cause of heart failure and sudden cardiac death, early detection of HCM is vital for effective management and prevention of life-threatening complications.

Researchers from University College London (UCL), Barts Heart Centre, and the University of Leeds conducted a comprehensive study involving three groups: healthy individuals, those with diagnosed HCM, and people carrying a genetic mutation linked to HCM but showing no visible signs of the disease (no heart muscle thickening).

To achieve this groundbreaking detection, the research team utilized two advanced heart scanning techniques – cardiac diffusion tensor imaging (cDTI) and cardiac MRI perfusion (perfusion CMR). The cDTI technique allows visualization of the organization and packing of individual heart muscle cells (microstructure), while the perfusion CMR identifies issues with the small blood vessels supplying the heart muscle (microvascular disease).

Remarkably, the scans revealed that individuals with overt signs of HCM displayed abnormal organization of heart muscle cells and a higher incidence and severity of microvascular disease when compared to healthy participants. More importantly, the scans also identified abnormal microstructure and microvascular disease in individuals with the problematic HCM-associated gene but no apparent symptoms or muscle thickening. Approximately 28% of these individuals exhibited defects in their blood supply, a crucial early indication of HCM development.

The potential benefits of these advanced scans are manifold. For one, they offer an invaluable tool for accurately identifying early signs of HCM, enabling doctors to intervene sooner than ever before. This early detection is especially crucial for trials investigating gene therapies and drug treatments aimed at preventing the disease’s progression in high-risk individuals.

As Dr. George Joy, leader of the research team from UCL Institute of Cardiovascular Science, emphasized, “The ability to detect early signs of HCM could be crucial in trials testing treatments aimed at preventing early disease from progressing or correcting genetic mutations. The scans could also enable treatment to start earlier than we previously thought possible.”

The findings pave the way for better risk assessment and personalized care for individuals at risk of developing severe HCM and its life-changing complications. The scans’ ability to link advanced imaging with extensive genetic testing represents a significant advancement in understanding the subclinical manifestations of this serious condition.

Moreover, the advent of these revolutionary scans coincides with the recent approval of the first drug to slow HCM progression – mavacamten – in Europe. The combination of these new therapies, cDTI, and perfusion CMR scans holds immense promise in significantly enhancing the quality of life for HCM patients.

As Dr. Luis Lopes, senior author of the study at UCL Institute of Cardiovascular Science, explains, “The findings allow us to understand more about the early subclinical manifestations of this serious condition but also provide additional clinical tools for screening, monitoring, and hopefully, in the near future, for therapeutic decision-making.”

The medical community is optimistic about the potential implications of this groundbreaking research. Early detection and personalized treatment strategies based on these innovative scans could transform the landscape of hypertrophic cardiomyopathy management, providing hope and better prospects for individuals at risk of this potentially life-threatening condition.