Brugada Syndrome

Some fifteen years ago, my youngest cousin had a cardiac arrest. His heart simply stopped. He got up during the night and was found downstairs on the floor in the morning. He had been absolutely fine the previous evening. He was thirty-one. The funeral was a wretched affair in pouring rain. 

His father, my uncle, died in a similar way aged thirty-nine. He was eleven years my elder, fourteen years younger than my mother. It was one of the few times I saw my mother cry.

Going back even further, my grandfather also died suddenly of heart failure at the age of fifty-six. None had any obvious warnings, although my uncle and cousin both experienced dizzy spells. Concerns that it might be some kind of inherited condition were not taken seriously until more recently.

In part, this was because of the very public incident involving the Bolton Wanderers footballer, Fabrice Muamba, who collapsed during a televised match in 2012. He could not have been in a better place. He received immediate attention, and, in another stroke of good luck, a consultant cardiologist attending the match as a fan ensured he was taken to a specialist coronary unit where he recovered. His heart stopped for 78 minutes and he received fifteen debrillator shocks.

This led to greater awareness of Sudden Arrhythmic Death Syndrome (SADS, not to be confused with Seasonal Affective Disorder, or SAD). There are several kinds – Muamba has hypertrophic cardiomyopathy – but taken together, SADS kills at least 500 people a year in the U.K. at the average age of 32. It is under-diagnosed, with some deaths probably put down to drowning, falling or road accidents. 

Two further cousins, half-sisters of the one who died, insisted on investigations. They were referred to the Inherited Cardiovascular Conditions Service at Leeds General Infirmary where they were diagnosed with Brugada Syndrome, an inherited condition which disrupts the flow of sodium ions into the heart muscle, causing abnormal heart rhythms. These rhythms are so infrequent as to be difficult to spot. Often, there are no symptoms at all. In other cases there may be dizziness or fainting. Sometimes, the first time it shows itself is through fatal cardiac arrest, often during sleep.

Because Brugada is an inherited condition, and there being no surviving intervening relatives, it was recommended that all the cousins be tested.

Now, having reached such an age that I would probably have dropped dead decades ago if I had Brugada, I am not particularly concerned for myself. However, I am occasionally aware of brief palpitations. Weeks can pass without anything and then I’ll get three or four the same day. It seemed sensible to be tested for the sake of my children.

Last June, nearly two years after seeing my G.P., a letter came from Leeds asking me to attend on two successive days – surprising as it was during the pandemic.

The first appointment was to get a Holter monitor: a phone-sized device to record heart activity over time. For the next 24 hours I carried it around and went to bed with its electrodes stuck to my chest. It had a button to press if I experienced any symptoms, which I did twice on feeling a few ‘flutters’. 

The second appointment was for further tests: most significantly a 12-lead electrocardiogram (ECG) and a transthoracic echocardiogram which uses ultrasound to look at the structure of the heart in motion. It was a relief to be told everything was fine (well, the blood pressure wasn’t on that particular day, but I wrote about that last year). Although these tests rule out a number of SADS conditions, they do not rule out Brugada. This requires a further diagnostic test: the Ajmaline provocation test.

The Ajmaline test aims deliberately to trigger the specific ECG pattern that occurs in Brugada. It does not produce the pattern in those who do not have Brugada. My cousins’ abnormal rhythms were observed only during the the Ajmaline test. After another ten-month wait, my name reached the top of the Ajmaline list in March. Again, it surprised me they were still testing during Covid, but as with any potentially fatal condition, it seems right to be doing so.

I thought it would be carried out in a clinic like the first set of tests. I didn’t expect to be in a hospital ward, in a cardiac bed, surrounded by seriously ill patients. The man beside me was just coming round after an angioplasty and stent operation. An older man opposite had been in since a heart attack some weeks earlier, and was waiting for the same operation the next day. A younger chap had a congenital hole in the heart, which had been causing his oxygenated and de-oxygenated blood to mix, not detected until his thirties when he had suffered a stroke. And there was I, apparently nothing wrong, occupying a bed for three hours, most of which was waiting for the effects of the test to wear off. It felt tactless afterwards wishing them good luck and walking out.

Basically, what they do is connect you up to an ECG machine and gradually inject you with Ajmaline to see whether it causes the abnormal Brugada rhythm. I had to sign a consent form. The specialist nurse practitioners who carried it out described the odd sensations you might experience, none of which I had, and the terrifying things that can go wrong, none of which they had never known despite carrying out the procedure up to a dozen times a week.

You get the result straight away. I do not have Brugada. They sent me a letter listing some of my ECG readings: the PR interval, the QRS interval, the QTc, the J point elevation, the V1 and V2 rSR patterns in the second and third intercostal spaces…   

Me neither! But it does mean that my kids should be all right and do not need to be tested. They also picked up my occasional brief tachycardia on the Holter monitor but said it was absolutely no cause for concern unless it becomes frequent or sustained.

None of my diagnosed cousins’ children have Brugada either. Apparently there is no gene mutation in the family, so where it came from, and where it has gone, remains a mystery. Some of my other cousins, even my late cousin’s brother and son, head-in-sand, have decided not to have the tests: “I’ve got too many genes already,” one said.

I’m glad I did get tested. In effect, I’ve had a thorough heart checkup and passed, all free on the wonderful NHS. Privately, it would have been done sooner, but the costs (three appointments, various tests, half a day in hospital, a follow up phone call) could have been prohibitive , leaving us worrying and wondering.