Improving the diagnosis of Brugada syndrome

A genotype-phenotype association study of Ajmaline provocation and its role in the diagnosis of Brugada syndrome

Researchers and volunteers are working together to improve the diagnosis of a dangerous heart condition. Brugada syndrome is a rare inherited heart condition that can cause sudden death. People with Brugada syndrome have an abnormal heart rhythm, with a distinctive signature when recorded by an electrocardiogram (ECG). In people with a hidden form of Brugada syndrome, the pattern isn’t always present, but can be revealed by with an Ajmaline test. Unfortunately the accuracy of the Ajmaline test is in controversial as it can initiate the Brugada pattern even in some healthy people. Brugada Syndrome was thought of as an electrical problem of the heart. But there is now evidence that it may be due to a problem with the heart muscle as well. This has implications for how it is diagnosed and treated in the future. The team have recruited 1,000 volunteers, some who are healthy and some with Brugada Syndrome. They will analyse everyone’s DNA for variations in the genes related to Brugada Syndrome, and use high tech scans to study their heart muscle structure. They will then correlate DNA variations and heart scans with the ECG patterns volunteers show after taking Ajmaline. The purpose of the study is to reveal how people’s genes and heart structure influence the results of the Ajmaline test. This will improve doctors’ ability to make an accurate diagnosis of people with hidden Brugada Syndrome.