Every week in Ireland, one young person under the age of 35 is tragically taken from their family by Sudden Arrythmic Death Syndrome or SADS. But doctors at the Family Heart Screening Clinic, funded by the Mater Foundation, are working to save those at risk with ground breaking medical research into genetic testing.
Derek Crinion is one such doctor, having specialised in cardiac rhythm management to become an expert in the heart conditions that cause SADS. Last year he received a fellowship in electro-physiology, thanks to funds raised by supporters of the Mater Foundation. Since then he has worked under Dr Joe Galvin to screen the most at risk families for dangerous heart defects. These are families who have already lost someone to an inherited cardiac condition or who have a loved one that’s been diagnosed with one, and may have other members with the same hidden heart problem.
Derek and the amazing medical team at the Family Heart Screening Clinic, led by Dr Joe Galvin, have seen over 10,000 people for inherited cardiac conditions over the past 10 years. In the process, they have established a database of patient records. Derek plans to use this data to identify the most commonly shared genes among families with inherited cardiac conditions to facilitate genetic testing, which will help protect more people from sudden cardiac death.
To give a clear idea of what they are hoping to achieve with this data, he references the current state of affairs where doctors use medical technology to screen a patient’s heart for the first signs of a potentially fatal problem.
“By screening people, the hope is that you save lives. But the nature of these conditions is that they’re hidden and elusive. So in order not to miss anything, we need to complement our imaging of the heart with blood tests for dangerous genes.”
This newly established database of patient records should provide an insight into the most commonly shared genes of people at risk of SADS and other inherited cardiac conditions, and help complement the current screening procedures which involve state-of-the-art equipment funded by supporters of the Mater Foundation.
Genetic screening could also offer a greater levels of comfort to families who may possess an inherited cardiac condition. At the moment, the younger family members are advised to attend the clinic for screenings on a periodic basis, in order to ensure that problems don’t develop later in life, which means they and their parents experience a degree of continuing stress and uncertainty. But genetic testing could allow for a clearer answer of whether they or their loved ones are or are not at risk.
“For instance, if your brother is admitted to the Mater having being diagnosed with a dangerous, inherited heart condition and you present yourself for screening, you might not have any visible symptoms but you would have to schedule further visits to be sure of your safety. But if I was able to do a blood test and it showed you had the genetic condition, then I could straight away advise you and put you on a treatment plan. On the other hand, if I did a blood test that was able to show you weren’t at risk from an inherited cardiac condition then you could be discharged with the assurance that it wouldn’t later manifest itself.”
The lives that could potentially be saved, and the families that could be protected from fear of another tragedy, by this ground breaking research are dependent on people like you who raise funds for the Family Heart Screening Clinic. It’s thanks to the incredible generosity of our supporters that the Mater Foundation is able to offer doctors like Derek a fellowship for their work which, if it continues, could save thousands more lives in the fight against SADS.
In the meantime, the existence of a database of over 10 years of patient records from the Family Heart Screening Clinic will help provide critical insights into SADS related deaths in Ireland and help prevent more young people from being lost to this hidden killer.
Learn more about the stories of families that have been screened for inherited cardiac conditions at the Family Heart Screening Clinic, like little Laura Byrne and her brother Charlie, by clicking on the photo below.