New scan can detect deadly heart disease before symptoms appear

Combining two types of heart scans may help doctors detect hypertrophic cardiomyopathy (HCM), a fatal heart condition, before symptoms and signs appear on conventional tests, according to a study funded by the company. The study, published today in the journal Circulation, says the study offers an unprecedented opportunity to improve treatment of symptoms in the early stages.

Being able to detect HCM earlier than ever before also helps trials investigating gene and drug therapies aimed at stopping the disease from developing in at-risk people.

HCM is a genetic disease that affects approximately 1 in 500 people in the UK. This makes the heart muscle wall thicker than normal, affecting the heart’s ability to pump blood through the body. It is the leading cause of heart failure and sudden cardiac death.

State-of-the-art MRI scan

Researchers from University College London, Barts Heart Center and the University of Leeds studied the hearts of three groups of healthy people, those who already had HCM, and those who had the gene mutation that causes HCM but had no obvious signs of the disease (no myocardial hypertrophy).

To do this, they used two state-of-the-art cardiac scanning techniques. Cardiac diffusion tensor imaging (cDTI) is a type of MRI scan that shows how individual myocardial cells are organized and packed together (microstructure of the heart). Cardiac MRI perfusion (perfusion CMR) also detects problems with the small blood vessels that supply blood to the heart muscle (microvascular disease).

Scans showed that people with overt signs of HCM had highly abnormal cardiomyocyte organization and higher prevalence and severity of microvascular disease compared to healthy volunteers.

Importantly, the scans were also able to identify abnormal microarchitecture (disorganization of muscle cells) and microvascular disease in people who carried the offending gene but had no symptoms or muscle thickening. They found that healthy volunteers had a defective blood supply, whereas 28% had a defective one. This means doctors can more accurately identify the early signs of HCM that develop in her patient’s heart.

open the door to therapy

Mabacamtene, the first drug to slow the progression of HCM, was recently approved for use in Europe, allowing doctors to reduce the severity of the disease if symptoms and muscle thickening develop. Gene therapies are also in development, which can prevent symptoms entirely by blocking the development of HCM in its early stages.

Perfusion CMR is already used in some clinics to distinguish HCM patients from other causes of muscle hypertrophy. Researchers believe these innovative new treatments, combined with cDTI and perfusion CMR scans, offer doctors the best chance ever to treat people at risk for HCM early enough to prevent HCM from developing.

This will save many families from the pain of seeing their loved ones’ lives destroyed by these devastating conditions.

”It’s important in clinical trials testing treatments.”

Dr George Joy, Clinical Research Fellow at University College London, who led the study with Professor James Moon and Dr Luis Lopez, said: The scans may also allow treatment to begin sooner than previously thought possible.

“We now want to see if scans can be used to identify which patients without symptoms or myocardial hypertrophy are at the highest risk of developing severe HCM and its life-changing complications. Therefore, the information gained from scans may help physicians make better decisions about how best to care for each patient.”

Our Medical Director Professor Sir Naresh Samani said: “Hypertrophic cardiomyopathy is a genetic disease that is diagnosed in thousands of people in the UK each year. Advanced HCM can lead to heart failure and an increased risk of sudden cardiac death.

“This study shows that very early changes in the heart caused by HCM can be detected before they are visible to the naked eye.

Learn more about our HCM research here