Case studies

Read our case studies to learn more about how we are working with our partners to transform and set new standards for patient care. 

The first in the series looks at how the inherited cardiac conditions (ICC) teams across our hospitals are working together to improve early detection and diagnosis of genetic heart disease. 

Improving diagnosis for inherited cardiac conditions (ICC)

Inherited cardiac conditions (ICC) is a group of heart conditions that can be passed on in families. When a family member is diagnosed with an inherited cardiac condition, it is recommended that other family members – usually immediate relatives (parents, children and siblings) – are tested to see if they already have or are at risk of developing the condition, even if they do not show symptoms. Detecting new cases this way (also called family or genetic screening) is crucial to effectively diagnosing people with ICC and reducing the risk of complications including sudden death.

After experiencing a bout of symptoms, David, an adult patient at Royal Brompton Hospital, was diagnosed with inherited cardiomyopathy, a genetic form of heart disease. Following David’s diagnosis, his son was screened at the hospital, but his test results failed to detect any clinical abnormality linked to his father’s condition.

Failure to detect an abnormality at this stage would not exclude him from developing cardiomyopathy in the future, however. It was important to develop a complete understanding of whether or not he carried a long-term risk of developing the condition. This is only possible by studying how the diagnosis has presented itself in other members of his family who have also been diagnosed. David is the only member of his family who is a patient at Royal Brompton, so it is difficult to draw on other patient records.

Genetic testing in David’s case found a ‘variant of unknown significance’, or VUS – a genetic change that looks different to the way it is expected to look but cannot be classified as benign or malignant. One way to determine if a genetic change is a cause for concern is to see if it is present in other family members with the same condition.

David’s cousin, Ethan, is a patient at Guy’s and St. Thomas’, and was also recently diagnosed with inherited cardiomyopathy.

When Ethan was screened, consultants discovered the same genetic change (or VUS) that had been found in David’s genes. The fact that they both shared this genetic change led consultants at Royal Brompton and GSTT to believe that this was causing the heart condition in both patients and could play a significant role in the development – and diagnosis – of the disease. For example, unaffected members of the family, such as David’s son, could be tested specifically for this genetic change and their future risk could be predicted accordingly. 

Antonis Pantazis
An analysis by Dr Antonis Pantazis, consultant cardiologist and clinical lead for inherited cardiac conditions at Royal Brompton Hospital.

Inherited diseases are usually caused by an intricate combination of genetic, environmental and lifestyle factors. Getting a better understanding of an ICC diagnosis in a patient is like building a jigsaw puzzle piece by piece before it resembles a complete ‘picture’. In the case of David, it was important for the clinical teams at Royal Brompton and Guy's and St Thomas' to work jointly to draw meaningful comparisons between David and Ethan’s diagnoses, and establish both short- and long-term risks for them and their family members.  

Working together, the teams at both hospitals were able to take advantage of the clinical and genetic information they held for both individuals on their systems to quickly identify and interpret any disease patterns. Once identified, clinical experts could come together remotely and discuss how to plan, manage and join up David and Ethan’s care to ensure it was consistent and improved David and Ethan’s outcomes. This would have been challenging if the teams had not already developed a cross-site model that would enable faster planning, better decision making and more accurate diagnosis of complex genetic conditions.  

The case study illustrates what can happen when geographical boundaries between organisations are broken, and data is captured and shared in a way that is safe and accessible and effectively informs how clinical teams communicate, patients are diagnosed and treated, and services are delivered.