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 suffering from the world’s most common inherited heart disease.
Millions of people around the world suffer from hypertrophic cardiomyopathy (HCM), a heart muscle disease characterized by thickening of the heart wall. It is caused by a change in one or more genes and is mainly passed down through families.
Some feel well most of the time and have few or no symptoms. But others may suffer complications, such as heart failure and abnormal heart rhythms, which can lead to cardiac arrest.
The problem is that there is no cure. Doctors also don’t know which patients with this genetic disorder are at greatest risk of life-threatening complications.
But now a team of scientists from universities including Harvard and Oxford have found a way to predict the risk for people living with HCM.
The blood test could identify patients at highest risk of complications, allowing them to be monitored more closely or receive life-saving treatment.
In a landmark study, the team measured levels of a protein, N-terminal Pro-B-type natriuretic peptide (NT-Pro-BNP), in the blood of 700 HCM patients.
NT-Pro-BNP is released by the heart as part of normal pumping. But 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 heart changes that could lead to atrial fibrillation or heart failure.
A blood test measuring NT-Pro-BNP could transform the care of millions of people with the world’s most common inherited heart disease.
Study leader Professor Carolyn Ho, medical director of the Center for Cardiovascular Genetics at Harvard Medical School, said the test could help “target the right therapies to the right patients, at the right time.”
She added: “Continued studies of blood biomarkers will lead to a better understanding of HCM so that, in the future, we can offer our patients a blood test to identify who is at high or low risk of experiencing serious consequences from the disease.
“People at highest risk could be targeted for potentially life-saving treatments, as they could benefit the most, while those at lowest risk could avoid unnecessary treatment. »
Lara Johnson, 34, from Southampton in the UK, is one of many people who could benefit.
Eight years ago, she started experiencing shortness of breath and fatigue. After being referred by her GP for hospital tests, she was diagnosed with HCM. Several family members on his father’s side were also diagnosed with this disease.
“One of the hardest aspects of living with HCM is the constant uncertainty, never knowing what might change next,” Johnson said. “A simple blood test, which could help identify future risks earlier, would eliminate much of this anxiety.”
She added: “It could give people like me a chance to prepare and adjust our lifestyles as needed, and help us feel more in control. That kind of clarity wouldn’t just help me, it would make a world of difference for my whole family.”
Professor Bryan Williams, scientific and medical director of the British Heart Foundation, which funded the research, said the test “could benefit patients around the world”.
“After a diagnosis of HCM, patients and their families want to know what the future holds. This study shows that measuring various proteins circulating in the blood could help predict how the heart is functioning and future risk of complications from heart disease.”
“This new method could also provide information about the changing structure and function of the heart in people with HCM, which could indicate new ways to treat this disease to reduce future risks.”
