Hundreds Of Thousands At Risk Of Sudden Death From Faulty Gene

Alison Bough

New estimates released from the British Heart Foundation today show that around 620,000 people in the UK are carrying a faulty gene that puts them at high risk of sudden death.

The heart health charity says that the overall figures could be much higher due to underdiagnosis and undiscovered faulty genes which can increase a person’s risk of these potentially fatal conditions. These conditions can affect people of any age and each child of someone with an inherited heart condition has a fifty percent chance of inheriting it.

The BHF’s medical director, Professor Sir Nilesh Samani, said if left undetected and untreated inherited heart conditions can be deadly,

“They continue to devastate families, often by taking away loved ones without warning. Thanks to the public’s kind support our researchers have discovered some of the genes responsible for these frightening conditions but there is still much to do.”

For many families, the first sign there’s a problem is when someone dies suddenly from a cardiac arrest or heart attack with no obvious cause or explanation. Recent research has helped to discover many of the faulty genes that cause inherited heart conditions, leading to the development of genetic testing services for those at highest risk for some of these conditions.

In 2006, the Irish Heart Foundation set up a Sudden Arrhythmic Death Syndrome (SADS) support group to increase public awareness of sudden cardiac death in young people and support families affected by the silent killer. They advise that a family history of sudden unexplained death – particularly of people under fifty years of age – could suggest that there is an inherited heart problem and risk of SADS or sudden cardiac death in your family. A history of cot sudden infant death syndrome (cot death) is also very relevant.

The support group are advocating for screening centres for affected families and for the identification of at-risk individuals and families via the introduction of pre-participation sport questionnaires in schools and sports clubs.

They advise that if you encounter a person who is unresponsive and has no signs of normal breathing you should:

Get help. Dial 999 or 112 and ask for an ambulance.
Starting CPR quickly can double a person’s chance of surviving. If you are trained in CPR, follow the instructions you learned on your training course.
If you don’t have CPR training, use your hands to push hard and fast on the centre of the person’s chest. This will help pump some blood to the brain and other organs. Keep doing this until the ambulance, or someone with an AED arrives and has attached defibrillator pads to the person.

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