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Heart Of The Debate

16.03.22

Elijah Behr, M.D. Cardiologist at Mayo Clinic Healthcare in London, shares his knowledge of inherited cardiac conditions, and how genetics play a role in the risk for heart disease

An inherited cardiac condition is a disease affecting the heart (either the heart muscle or the electrics of the heart) that’s caused by genetic problems. These are misspellings of the genetic code, known as DNA, and are often called mutations. Mutations can be inherited from parents or can occur for the first time in a specific member of a family, known as a sporadic mutation. The individual, or family members carrying the same mutation, may then be at risk of complications of heart disease. These can include rhythm problems and sudden death, heart muscle weakness (known as heart failure) and strokes. Many patients will not have symptoms, but some will experience palpitations, blackouts, breathlessness or chest pain.

There are a few major categories of conditions that may be genetic in their basis;

  • Diseases of the heart muscle known as cardiomyopathy(hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic cardiomyopathy)
  • Diseases of the electrical function of the heart known as channelopathies or arrhythmia syndromes (long QT syndrome, Brugada syndrome, early repolarization syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), idiopathic ventricular fibrillation)
  • Premature coronary artery disease (furring of the arteries) usually due to high cholesterol levels (familial hypercholesterolemia)
  • Unexpected sudden deaths, some of which may be unexplained and known as sudden arrhythmic death syndrome (SADS), often are caused by genetic conditions, especially in young individuals. This means that their family members may carry heart disease.

If a heart disease is genetic then it means that other family members, who are directly related by blood to a person carrying an inherited heart condition, are at risk for carrying the same condition or developing it in the future. Many relatives will not be aware that they are carrying a condition and will not have symptoms. They are, however, at risk of complications. They should either be evaluated with clinical tests or have genetic testing if the mutation has been identified in their family.

If a family member has died suddenly and unexpectedly at a young age, this raises the possibility of genetic heart disease being the cause. This means that other family members maybe at risk for sudden death. Expert evaluation of cases of sudden death and their family members is therefore an important way of trying to prevent further deaths.

At Mayo Clinic Healthcare in London, we provide ahigh-quality service supported by internationally recognised experts in London and in the U.S. We can undertake all the tests necessary including rapid and affordable genetic testing to diagnose and manage patients with inherited cardiac conditions and investigate families with unexpected sudden deaths including SADS. These tests will be done promptly and conveniently, all on one day if required, backed up by a specialist nurse and genetic counsellor, who will support patients and families before and after their testing. This means that we provide a comprehensive, responsive and holistic service to families.

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