Finding ways to diagnose the causes of sudden cardiac death

Novel diagnostic markers in sudden arrhythmic death syndrome (Dr Chris Miles)

Sudden Arrhythmic Death Syndrome (SADS) refers to a sudden and unexpected death where no cause can be identified at post-mortem. It is often caused by one of several rare heart conditions that may run in families. One important cause of SADS is Brugada Syndrome (BrS), an electrical heart problem. But there are no clear abnormalities in the structure of the heart that are linked to this condition that pathologists can see at post-mortem. Recently, research has shown that subtle structural changes may be present in the hearts of people with BrS, and these are similar to those seen in a heart muscle disorder known as Arrhythmogenic Cardiomyopathy (ACM), also known as ARVC. This fellow will examine heart tissue from people who had SADS and will look at cases where family members of the affected person have a diagnosis of BrS or ACM, or where testing of the person’s genetic code suggests they may have one of these conditions. By comparing microscopic differences between BrS, ACM, and normal hearts, they hope to identify markers that could be used to diagnose the cause of SADS at the time of post-mortem. This study could improve understanding of how BrS and ACM arise; benefitting family members by establishing a cause of death, and help to determine the need for clinical testing in relatives, so those at risk could receive appropriate care.