‘If somebody has an inherited heart problem, we don’t care what age they are. They need to be seen by us’

We provide assessment for people of all ages with suspected inherited cardiac disorders and help patients manage such conditions.

I suppose the whole idea of having services for inherited heart diseases in Ireland began to take shape after the death of 24-year-old Gaelic footballer Cormac McAnallen in 2004. Sudden cardiac death in the young had been occurring before that, but it hadn’t really come to the public’s attention. People didn’t report it.

It was only when some very high-profile sporty people, who should have been the fittest in the land, died of heart rhythm disorders that people began to take note.

People were being referred for assessment but there weren’t really any proper services here.

I had completed a three-year research clinical training position in the Heart Hospital in London with Prof Bill McKenna and Prof Perry Elliott, who are specialists in inherited heart diseases, when I was asked to come back and set up a unit at Tallaght hospital.

Funded almost entirely by the Cry (Cardiac Risk in the Young) charity, the unit was to provide an assessment service for people at risk of sudden cardiac death. These people could have lost somebody in the family, in which case there might be a 50 per cent chance that they would also have an inherited heart condition and could also be at risk, or they had worrying symptoms.

I started in January 2007. At the beginning I was operating on a shoestring and trying to find space and time to have people assessed.

Tallaght hospital then agreed to help provide a dedicated unit, which opened in 2008, with equipment funded by donations and Cry.

Sudden cardiac death is usually due to a pre-existing condition and what causes the sudden death is a change in their heart rhythm. Their nice regular heart rhythm suddenly changes to a chaotic, abnormal heart rhythm, which effectively stops the heart pumping instantaneously and they die.

Rhythm changes

The causes of the rhythm change can be divided into three broad categories.

The first is a problem with hardening of the arteries and what we understand as a kind of medical heart attack where they get a blockage. This would be relatively rare in somebody under the age of 35 years.

In the under-35s the causes would either be structural problems such as heart muscle conditions, which are very often inherited and may not have been detected before the death, and the third category would be electrical conditions, a third of which are inherited.

These are grouped under the term Sudden Arythmic Death Syndrome (Sads). It’s the latter two categories in which we are primarily interested.

The centre’s name is unfortunate. If somebody has a family history or might have an inherited heart problem, we don’t care what age they are, they all need to be seen by us. Hopefully it will evolve and change. Our service is free and countrywide.

People come and have the basic investigations, which would be an ECG, a tracing of the electrical activity of the heart, an Echo test (an ultrasound of the heart), and an exercise test, on the same day. They then go home with a heart rhythm monitor for 24 hours that they can post back to us if they live far away.

We are then able to build a fairly comprehensive picture of their heart health and to see if there is any evidence of these inherited conditions.

We do all the tests and discuss the results with people on the same day because people are either high risk and need to start treatment or they are extremely anxious.

That anxiety can be disabling for some people so to answer the questions and put their minds at rest, all on the same day, is important.

We start at eight in the morning and we have clinics all day Tuesday, Wednesday and Thursday.

As we do all the investigations on the one day and talk to people in what can be a fairly emotive situation, where we may need to review the post-mortem of a loved one and explain why they might have died and review a fairly wide family history and collect a lot of information about other family members, we manage to see only about 30 patients a week.

Most people who attend have been referred by their GP and will be aware of a history in the family. It could be a very recent event or it could be something that happened 20 years ago.

Post-mortems

There is now a protocol where, if it is determined after post-mortem that a young person died of sudden cardiac death, the coroner will actually suggest to the family that they seek assessment with us or at the centre in the Mater hospital to look for any evidence of the inherited condition, so that’s a bit of progress we’ve made in the past few years.

There are a number of conditions that we look for, the implications and the treatment of each are different.

However, if we find evidence of an inherited heart condition, which could put them at risk of developing complications, we suggest medication, lifestyle adaptation, such as avoiding intensive sporting activity, or sometimes we advise the need to avoid certain medications.

If we consider somebody is at high risk of sudden cardiac death, we would sometimes recommend an implant or defibrillator.

The vast majority of people who come to us turn out not to have anything to worry about, but we are picking up more of these conditions.

The expectation is that if we are running for long enough, we should nearly be able to identify every family in the country that has an inherited heart condition, but there’s certainly a lot more work to do to try to do that.

Weekly routine

On Mondays I usually try to deal with the correspondence that the clinics generate.

On Friday we do the medication provocation tests. For some of the conditions, the only way to find out whether someone is a carrier is to give them medication to try to provoke the condition, which is hiding in the background.

Most days the staff here would finish at 4pm and I carry on until 5pm to get some administrative work done.

I have to do a creche run so I log on from home again in the evening time to finish up the admin work.

On Thursdays we run until 6pm to give us a time slot to see five patients in the afternoon because we offer families the option of coming in as a group rather than all coming in individually.

Out of hours When I go home I try to switch off. I used to do a lot of exercise – a fair bit of running and I was a swimmer when I was younger – but I have a two-year-old now and I've never really gotten back into exercising.

It’s something that I hope to get back to, at least going out and pounding the pavements a little bit.

Otherwise, going home and doing jigsaw puzzles with a two-year-old helps me unwind.