Health & Medicine, UK (Commonwealth Union) – A recent study led by researchers from the University College London (UCL), suggests that a combination of two heart scan techniques could revolutionize the detection of hypertrophic cardiomyopathy (HCM), a potentially deadly heart condition. By using these advanced scanning methods, doctors may be able to identify HCM before symptoms and conventional signs appear.
The study that received funds from the British Heart Foundation that appeared in the journal Circulation, brings in the possibility of treatment of the heart condition in the earliest stages.
Early detection of HCM has numerous benefits, especially for clinical trials investigating gene therapies and drug treatments aimed at preventing the disease’s progression in individuals at risk.
HCM is an inherited condition that affects approximately 1 in 500 people in the UK. It causes abnormal thickening of the heart’s muscular walls, impacting the heart’s ability to efficiently pump blood throughout the body. This condition is a leading cause of heart failure and sudden cardiac death.
The collaborative research involved UCL, Barts Heart Centre, and the University of Leeds. They studied 3 groups: healthy individuals, people already diagnosed with HCM, and individuals with a genetic mutation linked to HCM but without obvious signs of the disease (no thickening of heart muscles).
To conduct their investigation, they employed two cutting-edge heart scanning techniques: cardiac diffusion tensor imaging (cDTI) and cardiac MRI perfusion (perfusion CMR). cDTI is a type of MRI scan that reveals the organization and arrangement of individual heart muscle cells, known as the heart’s microstructure. On the other hand, perfusion CMR detects problems with the small blood vessels that supply the heart muscle (microvascular disease).
The scan results demonstrated that individuals with evident signs of HCM exhibited highly abnormal organization of heart muscle cells and a significant presence of microvascular disease compared to healthy volunteers.
Importantly, the scans also identified abnormal microstructure (disorganized muscle cells) and microvascular disease in individuals who carried the problematic gene but showed no symptoms or heart muscle thickening. Approximately 28% of these individuals had defects in their blood supply, in contrast to healthy volunteers. This breakthrough allowed doctors to more accurately recognize the early signs of HCM development in their patients’ hearts. The ability to detect HCM at this stage could be a game-changer for timely intervention and improved patient outcomes.
Recently, a groundbreaking development has taken place in the treatment of hypertrophic cardiomyopathy (HCM). Mavacamten, the first drug designed to slow down the progression of HCM, has received approval for use in Europe. This drug offers doctors the ability to mitigate the severity of the disease in patients who are already experiencing symptoms and muscle thickening.
In addition to drug therapies like Mavacamten, genetic therapies are currently under development, aiming to intercept HCM at an early stage, preventing the manifestation of symptoms altogether.
Perfusion CMR, an advanced heart scanning technique, is already being utilized in certain clinics to differentiate between individuals with HCM and those with other causes of muscle thickening. Combining these cutting-edge therapies with cDTI and perfusion CMR scans provides doctors with an unprecedented opportunity to treat individuals at risk of HCM at an early stage, potentially preventing the condition from developing in the first place. This promising approach opens up new possibilities for managing and even eradicating the impact of HCM on patients’ lives.
Dr Luis Lopes a senior author of the study from the UCL Institute of Cardiovascular Science says “By linking advanced imaging to our cohort of HCM patients (and relatives) with extensive genetic testing, this study detected microstructural abnormalities in vivo in mutation carriers for the first time and was the first to compare these parameters in HCM patients with and without a causal mutation.
“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.”
