Glasgow research could help patients with dangerous inherited heart condition
Researchers at the University of Glasgow are working on a British Heart Foundation (BHF) funded project to investigate why people with long QT syndrome, commonly an inherited heart condition, develop life-threatening rapid heart rhythms.
Inherited heart conditions can affect people of any age and the majority of people are undiagnosed. Often the first sign of a problem is when someone dies suddenly, or has a cardiac arrest with no known cause.
Long QT syndrome can cause heart rhythm disturbances (known as arrhythmias) and occurs in about 1 in 2,000 people. The most common symptoms are blackouts and palpitations, although symptoms can vary even within affected families.
Currently doctors do not understand what triggers abnormal heart rhythms in long QT syndrome, so they are challenging to predict or prevent. Studies in single heart cells suggest that abnormal current flow within the cell disrupts its electrical balance, but it is not yet understood whether this disruption in one cell could trigger dangerous arrhythmias in the whole heart.
Dr Rachel Myles and Dr Cherry Alexander at the University of Glasgow have been awarded £181,204 by the BHF to study the mechanisms of these arrhythmias at a cellular level and investigate the mechanism that allows the abnormal rhythm to spread across the heart.
Dr Myles explains: “Some people with long QT are badly affected by arrhythmias and may have an implantable defibrillator. However, this only treats the arrhythmias when they occur, but it doesn’t tackle the underlying problem in the heart. Understanding the mechanisms of these arrhythmias will help us predict when and why they happen and suggest new ways we can prevent them. This is very exciting research that could lead to new approaches to treating long QT.”
Gemma McCormack (24), from Rutherglen, suffered seizures three weeks after the birth of both her daughters, which were initially put down to epilepsy, but Long QT was diagnosed by a cardiologist after the arrival of her younger daughter Kyah nearly two years ago.
“I had been really, really tired which I thought was down to having had babies and then the seizures started, lots of them, some lasting over 15 minutes.
“To begin with doctors didn’t think it was my heart. When you’re told you’ve got a heart condition that can cause sudden death you panic. I panicked. For a while I didn’t want to be left on my own in case I died.”
Gemma had an implantable defibrillator fitted in December 2016, which will restart her heart should it stop, and she takes medication. Both have given her reassurance and she’s gained enough confidence to return to her job as a carer.
Given that Long QT is an inherited condition, Gemma’s immediate family were tested and while older daughter Aria (2) does not have the gene, one-year-old Kyah (1) does.
Gemma wants to raise awareness of Long QT among the general public and health professionals. She stresses that, while Long QT is not commonly known about, it is a serious condition that needs to be talked about more often. She had this to say to anyone who is diagnosed with the condition: “It’s not as bad as you first think. The cardiologists know what they’re doing. I panicked but I’m getting my confidence back.”
James Cant, Director of BHF Scotland, said: “We’re delighted to be funding this pioneering research at the University of Glasgow. Inherited heart conditions like long QT syndrome affect thousands of families, and too often are only diagnosed when someone tragically dies. We need more research to find new ways to detect and treat these conditions and prevent them from devastating more lives.
“Thanks to our supporters, universities in Scotland have been at the forefront of improving treatment, diagnosis and prevention of heart disease, here and around the world. Their donations make it possible for us to continue investing in high quality research that has the potential to improve and save lives.”
The BHF is the largest independent funder of cardiovascular research in Scotland and is currently investing £70 million in research in Scottish universities. The charity is totally reliant on the support of the general public to fund its life-saving research into heart and circulatory disease.
About British Heart Foundation Scotland
For over 50 years we’ve pioneered research that’s transformed the lives of people living with heart and circulatory conditions. Our work has been central to the discoveries of vital treatments that are changing the fight against heart disease. But so many people still need our help, from babies born with life-threatening heart problems to the many mums, dads and grandparents who survive a heart attack and endure the daily battles of heart failure. Every pound raised, minute of your time and donation to our shops will help make a difference to people’s lives.
First published: 3 May 2018