For those at risk of sudden death, a screening facility is essential to save their lives. Elaine Edwards reports.
When an apparently healthy person drops dead suddenly, it can take those left behind years to recover from the singular shock, never mind the normal, but life-altering grief that follows a death.
And it may come as an additional blow for immediate family members to be told their loved one has died from a rare, previously undiagnosed, heart problem for which they too may need to be screened.
A fundraising campaign by the Mater Foundation aims to raise money for a new national family screening centre for those at risk of sudden death due to such rare heart conditions, commonly grouped under the term Sudden Adult Death Syndrome (SADS).
Many of these heart defects and genetic conditions have only come to the fore in relatively recent medical history. So families with a decade's long history of sudden, unexplained death many just in recent years have become aware of an underlying cause.
Ann Carroll (63) from Bunclody, Co Wexford, relates a remarkable and particularly poignant family history of such deaths, which has just recently been attributed to a very rare, genetic heart problem known as Long QT Syndrome (LQTS). It is one of a number of conditions, most of them known as "channelopathies", which can result in SADS.
Essentially, it is an electrical abnormality in the heart's mechanism which means it takes longer than normal to go through its full recharge and recovery period in between heartbeats. Figures from the US claim it affects one in 5,000 people.
The heartbreaking catalogue of family deaths started with Ann's own sister, who died suddenly aged just eight in 1951. Within the next two years, her brother died aged just 11 and her mother died at 38 years old. A sister died in 1988, aged 36, leaving four children. A brother died 12 years ago aged 47, also from a heart problem.
Another brother had a triple bypass operation in 1988 and subsequently had an internal device called an implantable cardioverter-defibrillator (ICD) fitted to regulate the heart in case it goes into irregular rhythms or arrythmias. Yet another brother's daughter died suddenly aged 19. That girl's now teenage sister was recently diagnosed with LQTS after she suffered blackouts and also has an ICD.
Ann's own son James (35) was recently fitted with an ICD when he suffered from an irregular heartbeat in January and subsequently had a heart attack during treatment. He too has had an ICD implanted and is recovering from the surgery. Ann herself has been diagnosed with LQTS and is taking beta blocker medication.
Not all sudden cardiac death is related to such genetic conditions, however.
Dr Joe Galvin, consultant cardiologist at the Mater Hospital in Dublin, says: "Sudden cardiac death is due to coronary artery disease in the vast majority of people over 35 years of age.
"If they drop dead suddenly and there's no other cause found, you will find coronary artery narrowing or blockages in probably about 80-90 per cent of cases.
"But the commonest cause of cardiac death in those under 35 is cardiomyopathy and that's a heart muscle abnormality of which there are two types.
"The commonest type is hypertrophic cardiomyopathy where the walls of the heart are thicker than they should be. The less common type is dilated cardiomyopathy, where the heart basically gets saggy and contracts and pumps poorly."
A condition known as anomalous coronary arteries, where the arteries branch off the heart in unusual positions, sometimes resulting in narrowing, can also cause sudden death. Myocarditis, an inflammation of the heart muscle that is often due to a viral infection, can cause abnormal rhythms and death.
The rarer, channelopathic conditions such as LQTS are, however, what cause "true" SADS, where no obvious cause of death can be found during a post-mortem, Dr Galvin says.
But pinning down numbers for those affected by sudden cardiac death is a major problem as there is, surprisingly, no reliable way of tracking how many such deaths, or even how many cardiac arrests, there are in Ireland each year.
Dr Galvin is a member of the National Task Force for the Prevention of Sudden Cardiac Death, which is looking at methods to access this information, including, possibly, the provision of extra information on death certs, a cardiac arrest registry or a post-mortem registry.
The consultant, along with two other doctors, one with a special interest in cardiomyopathy, will operate the screening facility at the Mater Hospital's Heart House at Eccles Street in Dublin and Connolly Hospital in Blanchardstown.
"What we want to target are the highest risk group, that is the first-degree relatives of people who have dropped dead suddenly, particularly those under 35 years of age - mothers, brothers, sisters, fathers, children," says Dr Galvin.
"What we are going to do is put the word out to GPs and to the public that if a first-degree relative drops dead at less than 35 years of age, go to the GP and get the death certificate - find out what they died of. If there was no cause found or if there was cardiomyopathy found, then the family members should be screened."
Funding for the family screening facility, which will require an initial €1 million, will be raised through the sale of heart badges during the annual Help Us Fix It campaign from February 14th to 27th.
If you would like to sell heart badges or make a donation to the campaign, contact the Mater Foundation at 01-8305193
www.mater-foundation.ie
For cardiomyopathy information and support see: www.cardiomyopathy.org
Irish Heart Foundation: www.irishheart.ie