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Coronary Heart Disease caused by faulty genes


    Lucy Norton writes about recent reports from the British Heart Foundation on genetic heart conditions, and the importance of being aware of not just the things you can do to look after your heart but also to become aware of the things you cannot directly control.

    By Lucy Norton

The British Heart Foundation (BHF) has recently reported that an estimated 620,000 people in the UK are at risk of developing coronary heart disease, or sudden death from heart conditions, due to their genetics and faulty genes. Most of these people will be unaware that there is anything wrong at all before they have a problem with their heart.

We are all educated and have some understanding that a healthy lifestyle involving a balanced diet, exercise and no smoking will play a part in our own mortality. Generally speaking it has always been held that the healthier you are the less likely you are to suffer a heart attack (or myocardial infarction to give it its medical term).

However, it is reported that for a significant number of people they will have inherited a genetic heart condition which they will know nothing about. For example, and largely due to undiagnosed heart conditions, it has been estimated that each week in the UK, around 12 seemingly healthy people aged 35 or under are victims of sudden cardiac death.

Thanks to ongoing research, the medical profession now has a better grasp of inherited conditions, and genetic testing has been developed for those at highest risk of such conditions. It is reported that a child of someone with an inherited heart condition can have a 50% chance of inheriting it themselves – if diagnosed, it means that they can then be monitored and/or treated appropriately.

The BHF recognise that further research is required to continue to better understand these conditions and hopefully save lives as a result.

How do you find out if you have an inherited heart condition?

This could be difficult as many people will have no symptoms at all. However, the BHF report that warning signs include developing dizzy spells, palpitations and blackouts.

The BHF also report that the obvious reason for looking for testing for an inherited heart conditions is if you have a family member who has been diagnosed with an inherited heart condition. Other reasons include a family history of premature death, a diagnosis of angina, or if you have had a heart attack at a young age.  In any of these scenarios a GP should suggest referral for testing.

If a diagnosis of inherited heart condition is made, monitoring and treatment can reduce the risk of a sudden heart attack or cardiac arrest.

Our experience

As knowledge and understanding of these potentially fatal conditions improves, it seems to me that it will become increasingly important that GPs and other medical professionals take a full family history to assess whether or not further testing should be carried out to see if there is a genetic risk of coronary heart disease or sudden death. It may potentially also prove negligent not to refer for testing in the face of such a family connection.

We already see clinical negligence cases for delays in diagnosis or missed diagnosis of heart conditions due to failures in medical care. It would be great to see a reduction in these potential cases, and a reduction in patients suffering due to delayed diagnosis of heart conditions, by some early testing and diagnosis of these genetic conditions.


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