How 30 years of medical progress has helped our understanding

28th July 2019

This article is taken from our May issue of My Life magazine. You can read the whole magazine here, or to subscribe to receive a free copy via email or post please sign up here.

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By Dr Antonis Pantazis, Consultant Cardiologist at the Royal Brompton & Harefield NHS Foundation
Trust and clinical lead for cardiomyopathy and Samantha Mason, Genetic Counsellor at the Royal Brompton and Harefield.

A considerable volume of new information about heart muscle conditions has emerged in recent years.

Inherited heart muscle conditions (cardiomyopathies) are different in many aspects than acquired and degenerative heart conditions. They are chronic conditions, often caused by a spelling mistake in the DNA, which nowadays can be identified in a good number of patients.

Inherited heart muscle conditions are not present in the heart from birth. They develop later in life because of the messages sent to the body from the DNA - the genetic library. They can present early in life and may affect many relatives in the same family.
Inherited heart muscle conditions may be entirely asymptomatic, but can occasionally cause limiting
symptoms and be associated with serious risks.

What is new in diagnosis?

Cardiac imaging has revealed details of the anatomy and function of the hearts that have led to better understanding of the condition and detection of early manifestations.

Contemporary imaging can describe ultrastructural details of the heart cells, pick up inflammatory process and associate them with the clinical presentation.

Various types of cardiac monitoring have enabled us to keep a close eye on the patients with cardiomyopathy and detect rhythm abnormalities.

How has the use of genetic information changed?

In 2009, the CMA campaigned for genetic testing to be established as an important part of clinical practice and there has been major progress in this field.

Thirty years later, it is steadily becoming a standard of care to offer genetic testing to individuals who
have a diagnosis of cardiomyopathy and is now broadly offered by the NHS. Although some clinical decisions may take into account the result of the genetic testing, genetic testing may have no clinical value to the individual already diagnosed with cardiomyopathy; however, it is important for the family members and it can help to identify individuals who are at risk of developing cardiomyopathy.

Inherited cardiac conditions usually have a 50% chance of being passed on and they do not skip generations.

It is also a useful test for family members who are thinking of planning a family and ‘Preimplantation
genetic diagnosis’ (PGD) can be offered to patients diagnosed with cardiomyopathy - if a gene has been identified - in order to rule out the inheritance of the faulty gene.

To read the full article in our special 30th anniversary edition of My Life, click here.