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Heart health and genetics: why screening is so important for our community

Around 7.6 million people in the UK are living with a heart or circulatory disease, and an estimated 340,000 live with an inherited cardiac condition.

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Inherited cardiac conditions are genetic disorders affecting the heart. They result from mistakes in genetic code, also known as DNA mutations. These cardiac conditions can be inherited from parents, or occur due to a genetic mutation in an individual.

“Genetic cardiac conditions affect people of all ages and ethnicities,” says Professor Elijah Behr, cardiologist at Mayo Clinic Healthcare. There are a few cardiac conditions where Ashkenazi Jews are more at risk, such as familial hypercholesterolaemia, a higher level of cholesterol in the blood that increases the risk of heart disease, heart attack and stroke. Incidence of FH is two to five times higher in Ashkenazi Jews compared to the general population.

There are several types of inherited cardiac conditions:

Cardiomyopathies, which affect the functioning of the heart muscle, impairing the heart’s ability to pump blood.

Channelopathies, or arrhythmias, which affect the heart’s electrical function, causing abnormal heartbeats.

Familial hypercholesterolemia (FH), which affects how the body processes cholesterol, causing an accumulation of cholesterol in the blood.

What are the symptoms?

Symptoms can include palpitations, blackouts, breathlessness or chest pain, but many people with inherited cardiac conditions will not display symptoms. These conditions often go undiscovered until later in life.

“If a family member has died suddenly and unexpectedly at a young age, it is possible that genetic heart disease is the cause. This means other family members may be at risk,” Professor Behr says. “Expert evaluation of cases of sudden death and family members is an important way to try to prevent further deaths.”

How are these conditions found?

As many people do not display symptoms, these conditions can be difficult to diagnose. The NHS offers routine health checks at five-year intervals for everyone over the age of 40 and heart health is assessed during these checks. Many people in the UK, therefore, believe that 40 is the recommended age at which to have routine heart check-ups.

However, in the United States, the American Heart Association advises people to start getting “healthy heart checks” from the age of 20.

A family history of cardiac conditions, symptoms that align with those of inherited cardiac conditions, or a sudden death in the family are good reasons to test for these conditions.
By visiting a private cardiology clinic, as offered by Mayo Clinic Healthcare in London, you can have a heart check-up far more regularly and at a much younger age, to give you peace of mind that you’re doing everything you can to keep your heart healthy. They can also offer genetic testing for cardiac conditions, which on the NHS is often only available if you have symptoms, or if a family member has a diagnosed inherited condition.

Mayo Clinic Healthcare’s cardiac clinic is staffed by specialists in comprehensive cardiovascular evaluation, genetic testing, genetic counselling and screening, who work together to evaluate and reduce the risk of heart disease caused by genetic factors.
Evaluations generally begin with a discussion about health history with a cardiac genetic nurse or counsellor, who may recommend investigative tests such as advanced cardiac imaging, electrocardiography (ECG) and genetic testing.

Following testing, a cardiologist will go deeper into family history, assess personal risk of those conditions and their complications, and suggest appropriate follow-up.
“Improvements in cardiac imaging and advanced ECG technology and the development of genetic screening and genetic counselling are helping clinicians and families work together to identify and manage inherited cardiac conditions,” says Professor Behr.

You can read more here about approaches to evaluation following sudden death in this review article, co-authored by Professor Behr.

Mayo Clinic Healthcare, in Portland Place London, provides a comprehensive, integrated and streamlined approach to clinical assessment, thorough investigations and a clear management plan. It is the front door to Mayo Clinic and more than 4,000 physicians across every speciality.

Mayo Clinic Healthcare cardiologists offer a wealth of expertise and advanced diagnostics testing to ensure a clear understanding of your condition, which is vital to tailoring effective treatments to you.

Learn more about Mayo Clinic Healthcare’s state-of-the-art health services at mayoclinichealthcare.co.uk or call 020 7871 2575.

Sources:
British Heart Foundation UK Factsheet, April 2023
NHS Health Check (2019) What is an NHS Health Check?
American Heart Association (2019) Heart-Health Screenings

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