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Heart charity warns over faulty gene risk

01/02/2017

Heart charity warns over faulty gene riskAround 620,000 people in the UK are living with a faulty gene which places them at an increased risk of developing coronary heart disease or sudden death, a charity has warned. To make matters even worse, most of them are totally unaware.

According to the British Heart Foundation (BHF), the number of people with the faulty gene hypertrophic cardiomyopathy (HCM) is 100,000 higher than originally thought and could be even higher still in reality.

Every week in the UK, approximately 12 seemingly healthy individuals aged 35 or under suffer a sudden cardiac arrest with no explanation. The cause is predominantly undiagnosed heart conditions.

The prevalence of inherited conditions is becoming better known, however, the charity warned that as yet undiscovered faulty genes and under-diagnoses mean the real scale is inevitably unknown.

A child of someone who has an inherited heart condition has a 50% chance of inheriting it themselves too. Nevertheless, research has helped to uncover many of the faulty genes that cause inherited heart conditions and structured genetic testing services have been developed as a result.

However, the medical director of the BHF, Prof Sir Nilesh Samani, said that more research is urgently needed.

"If undetected and untreated, inherited heart conditions can be deadly and they continue to devastate families, often by taking away loved ones without warning.

"We urgently need to fund more research to better understand these heart conditions, make more discoveries, develop new treatments and save more lives."
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