Support for inherited heart conditions

Bethan Cowley, Acting Lead Nurse, Inherited Cardiac Conditions at the Royal Brompton Hospital, explains how specialist services can help you.

Lucy White with her nurse, Bethan Cowley

What is an inherited heart condition?

It is a heart condition that can be passed on through the family, as a result of a faulty gene. If one of your parents has the faulty gene, there is a 50:50 chance you could inherit it. In some cases, you can inherit the faulty gene without developing the condition. There are more than 50 known inherited cardiac conditions (ICCs) – the most common are familial hypercholesterolaemia and hypertrophic cardiomyopathy.

What usually happens when someone is diagnosed with an inherited heart condition?

Some patients are diagnosed unexpectedly – for example, following a workplace medical check or sports screening. Some are referred due to symptoms that suggest an ICC, or after a family member’s diagnosis or sudden death.

The risk of sudden death is very low for the majority of patients

Rigorous investigation is needed to assess risk, as this can vary widely, even within the same family. These will depend on what condition is suspected, but often include echocardiograms, electrocardiograms (ECGs), and questions about symptoms and family history.

Once we have that information we can go through a treatment plan with them. This could be anything from medications and procedures to lifestyle adjustments. We can also refer families for genetic testing to identify family members who are at a higher risk of developing an ICC.

Once an inherited heart condition is diagnosed, people often want to do some research. Information online can be inaccurate or scary: my advice is to look at reputable websites like the BHF to get a better understanding. The risk of sudden death is very low for the majority of patients.

What support is available?

This can take many different forms, depending on the patient and their condition. Patients are offered support from the ICC nurse specialist team. We look after the whole family from the beginning, for as long as they need us – it’s a lifelong service. We operate a one-stop-shop, where patients can meet the professionals they need to see, such as cardiologists, clinical psychologists, consultant geneticists and others, on the same day. Other ICC services work in a similar way – the main difference is that we care for children and adults under one roof and in the same team.

Lucy White with her nurse, Bethan Cowley

What if I don’t live in an area where specialist ICC services are available?

Ideally, you should be referred to a regional ICC service. These exist in all UK nations. This is particularly important where there is a family history of sudden death from an ICC. If you are at risk of an ICC, or have an ICC, you should at the very least be under the care of a cardiologist. It’s not enough to be under the care of just your GP.

Who can access your support?

Anyone with an ICC or who is at risk of one. Many of our patients are family members who are known to be at risk, but are otherwise fit and well. They need just as much support as people who have symptoms – particularly from a psychological aspect.

Genetic counselling and cascade testing is a large part of the work we do

You shouldn’t be discharged from the care of an ICC service or cardiologist without the specialist giving you clear reasons why. Even family members who have been screened and do not presently show any signs of the condition or symptoms need follow-up, because it may not rule out an ICC developing in the future. This may only be every few years.

How often should a patient hear from their ICC service?

This can vary depending on the individual and their condition. Some of our patients who have a diagnosis do not experience symptoms, so never need more than an annual follow-up.

Our patients are advised of situations when it may be appropriate to contact us, such as when they’re thinking about starting a family. This means that they can live as normal a life as possible, but we are there to provide support if they need it.

What about screening of family members?

Genetic counselling and cascade testing is a large part of the work we do. We identify who is at risk within a family, explain what the implications of this are and then offer them screening. This is usually the immediate or ‘first degree’ relatives of the family member diagnosed. If any of them are subsequently diagnosed, then their immediate family are also invited for testing, and so on. Usually, we give the initial patient a generic letter to pass on to family members – the letter will encourage them to see their GP and ask for a referral to our service. We don’t cold call people who may be at risk.

Some people don’t feel the time is right to talk or be assessed by us, but we want them to know that they can come back and resume screening at any time.

The free BHF Genetic Information Service can provide information and help facilitate a GP referral to a specialist clinic. Call 0300 456 8383 or order our free booklets on inherited heart conditions.

More useful information