SADS is usually caused by a heart problem which can be genetic, so family screening is vital to cut the risk of further fatalities, writes ARLENE HARRIS
WHEN JENNIFER Burke was five years old, she moved to Chicago with her parents, Paul and Cindy, and her siblings Sean and Catherine. Her dad was working for the IDA and, as the eldest of the three children, she was the most aware of the exciting future ahead of the family.
They emigrated in August 1993, but just four months later, the family was devastated when 33-year-old Cindy died suddenly just weeks before Christmas.
“My dad was transferred to America for work and we moved over in the summer,” recalls Jennifer. “It was a very busy time and we were all getting ready for Christmas in our new house. But early one morning, while everyone was asleep in bed, the phone rang.
“We’ve all experienced the fright an alarm clock or an unexpected noise can give us, and my mum apparently was so startled by the noise of the phone that she had a heart attack and died almost immediately.”
Tests revealed that Cindy had died from Sudden Adult Death Syndrome (SADS) resulting from undetected irregular heart rhythms.
Within days, the family was back in Ireland to bury Cindy and return to a place where loved ones could help to console the young father and his three children.
“My dad was so brilliant throughout the whole thing,” Jennifer says. “He was obviously heartbroken but did everything he could to make sure that we were shielded from negativity as much as possible. He told us that Mum had gone to heaven and we were so tiny that we didn’t really understand what was going on.
“We arrived back in Ireland two days after she died and were immediately surrounded by family and friends. On the day of the funeral, someone had arranged for us to be with all our cousins for a little welcome home party – it was all a bit surreal really.”
But despite her young age, the Leixlip woman, who works as a retail manager, had already developed a deep bond with her mother and has very fond memories of her.
“Being the eldest, I remember a lot about Mum and I am really close to my granny [my mother’s mother], so we do a lot to keep her memory alive,” she says.
“She was very loving and popular with everyone and I also remember that she was great fun. Her death was a terrible loss, but my dad made sure we all had a happy childhood.”
SADS is usually caused by a heart problem which can be genetic, so all of Jennifer’s family have been screened and, after lengthy examination, doctors discovered that she appears to have inherited the gene.
“Dad arranged for us to be checked out with a specialist not long after Mum died and we all came back clear,” she says. “But he didn’t want to leave it to chance, so he made sure that we continued to have check-ups. Then a few years ago, it was picked up that I have a prolonged heartbeat, so I was put on beta blockers.
“But I was having palpitations every so often, so recently I had a reveal monitor inserted into my chest to detect their frequency. A genealogist also discovered that I have the same gene as my mum, which might cause problems with my heart rhythm if I get a sudden fright.
“It was great to discover this as I now know to be careful about certain things. I can’t have a loud alarm clock or a phone in my bedroom and I can’t indulge in adrenalin sports, but apart from that, life for me goes on as normal.
“My mum died at a very young age from something she had no idea she was suffering from – I have been diagnosed with long QT syndrome, so I am now being monitored and have regular appointments. Hopefully, this will prevent the same thing happening to me or to whatever children I might have in the future.”
The Family Heart Screening Clinic at the Mater hospital is celebrating its fifth anniversary this year and has seen a massive increase in demand for its services since its opening in 2007.
Dr Catherine McGorrian, a cardiologist at the clinic, says the work carried out helps researchers to uncover genetic links within a family.
“There are a number of key steps when helping a family who have had a SADS bereavement, even if that bereavement was many years ago,” she explains.
“These include gathering health information from the family and the person who has died. If a blood sample or other frozen tissue sample is available on the person who has died, preserving that sample is really important for future possible genetic analyses.”
She says the screening programme has also answered a lot of questions about the underlying condition which causes SADS.
“The definition of SADS as a sudden unexpected death, within an hour of the onset of any symptoms and where no cause for the death is found on post mortem, is only a very recent definition,” she explains.
“However, over the last eight years in particular, there has been increasing understanding of this phenomenon of SADS and what underlies it.
“The mystery has always related to the fact that in SADS, the post mortem evaluation is normal – so there is no clear reason found as to why the person has collapsed and died so suddenly and tragically.
“However, we know now through screening families with SADS relatives, that in many families there was an inherited or genetic condition underlying the death, which caused the person to have a ‘hidden’ predisposition to ventricular arrhythmias, which doctors will sometimes describe as an ‘electrical storm’ in the heart.
“These conditions include so-called channelopathies such as long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). And we sometimes find that the SADS victim may have had an unrecognised early cardiomyopathy or heart muscle disease.”
The Family Heart Screening Clinic receives no government funding, so each year, the Mater Heart Appeal raises money for this important service. This year, it aims to collect €500,000.
For more information, visit mater
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or familyheart screening@mater.ie
