New blood test could predict genetic heart condition which affects millions worldwide

Scientists are racing against time to develop a simple blood test to predict if someone is at risk of suffering from the world's most common inherited heart condition, which does not have a cure yet.

The common genetic heart condition under the lens is hypertrophic cardiomyopathy (HCM). Millions of people worldwide suffer from this condition in which the wall of the heart becomes thickened. It is caused by abnormal genes in the heart muscle and is mostly passed on through families.

The problem is that there is no cure for this genetic condition. According to The Guardian, doctors also do not know which patients with the genetic condition are most at risk from deadly complications.

But now a team of scientists from universities including Harvard and Oxford found a way to predict the risk for people living with HCM -- a blood test.

According to the report, this blood test could identify patients who are most at risk of complications. This would enable doctors to monitor them more closely and provide them with life-saving treatment.

How will this work?

In a landmark study, the team measured the 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 the heart is working too hard.

Those with the highest levels had poorer blood flow, more scar tissue and changes in their heart, which 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 condition.

The test “could benefit patients around the world," Prof Bryan Williams, the chief scientific and medical officer of the British Heart Foundation, which funded the research, was quoted as saying by The Guardian.

“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," Williams said.

Meanwhile, Prof Carolyn Ho, the medical director of the cardiovascular genetics centre at Harvard Medical School said the test could help “target the right therapies to the right patients at the right time”.

She said that continued studies on blood biomarkers will lead to better understanding of HCM so that, in future, "we can offer our patients a blood test to identify who is at high versus low risk of experiencing serious consequences of the disease."

“People with the highest risk could be targeted for potentially life-saving treatments as they stand to receive the greatest benefit, while those at lowest risk could avoid unnecessary treatment,” she said.

Symptoms of hypertrophic cardiomyopathy

According to the Cleveland Clinic, common symptoms of hypertrophic cardiomyopathy include:

1. Chest pain — usually with physical activity
2. Dizziness
3. Shortness of breath and fatigue, especially with physical activity
4. Fainting
5. Feeling like your heart’s beating too fast or a fluttering in your chest (palpitations)
6. Swelling (edema) in the lower part of your body or in neck veins

But there could be cases when the patient may not experience these symptoms at all.

Complications of this condition

1. Atrial fibrillation (Afib), which can lead to blood clots and stroke
2. Congestive heart failure
3. Infective endocarditis
4. Ventricular arrhythmias
5. Sudden cardiac arrest and death