Blood test could predict who is most at risk from common inherited heart condition | Health
Scientists are developing a simple blood test to predict who is most at risk of the world’s most common inherited heart condition.
Millions of people worldwide have hypertrophic cardiomyopathy (HCM), a heart muscle disease in which the heart wall thickens. It is caused by a change in one or more genes and often runs in families.
Some feel fine most of the time and have few or no symptoms. But others may suffer from complications that can lead to cardiac arrest, such as heart failure and abnormal heart rhythms.
The problem is that there is no cure. Doctors also don’t know which patients with genetic conditions are most at risk for fatal complications.
But now a team of scientists from universities including Harvard and Oxford have found a way to estimate the risk for people living with HCM.
Blood testing can identify patients most at risk of complications, allowing them to be monitored more closely or receive life-saving treatment.
In a landmark study, the team measured levels of the N-terminal Pro-B-type natriuretic peptide (NT-Pro-BNP) protein in the blood of 700 HCM patients.
NT-Pro-BNP is released by the heart as part of normal pumping. However, high levels are a sign that the heart is working too hard. Those with the highest levels had poorer blood flow, more scar tissue, and changes in their hearts that could lead to atrial fibrillation or heart failure.
A blood test measuring NT-Pro-BNP could transform care for millions of people with the world’s most common inherited heart condition.
Study leader Prof Carolyn Ho, medical director of the cardiovascular genetics center at Harvard medical school, said the test could help “target the right treatments to the right patients at the right time”.
He added: “Ongoing work on blood biomarkers will lead to a better understanding of HCM so that in future we can offer our patients a blood test to determine whether they are at high or low risk of experiencing serious consequences of the disease.
“People at highest risk can be targeted for potentially life-saving treatments because they will achieve the greatest benefit, while people at lowest risk can avoid unnecessary treatment.”
Lara Johnson, 34, from Southampton, England, is one of many people who could benefit from the assistance.
Eight years ago, he began experiencing shortness of breath and fatigue. He was diagnosed with HCM after being referred for hospital tests by his doctor. Many relatives on the father’s side were later diagnosed with the condition.
“One of the hardest parts of living with HCM is the constant uncertainty, never knowing what might change next,” Johnson said. “A simple blood test that could help detect future risks earlier could eliminate much of this concern.”
He added: “This could give people like me the chance to properly prepare and adjust our lifestyles and help us gain more control. This kind of clarity will not only help me, it will make a huge difference to my whole family.”
Prof Bryan Williams, chief scientific and medical officer at the British Heart Foundation, which funded the research, said the test “could benefit patients worldwide”.
“Once diagnosed with HCM, patients and their families want to know what the future holds. This study shows that measuring various proteins circulating in the blood can help predict how the heart is functioning and the risk of complications from heart disease in the future.”
“This new method may also provide insight into the evolution of the structure and function of the heart in people with HCM, which may point to new ways to treat this condition to reduce future risk.”
