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Tuesday, 8 June 2021

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.  

41 comments:

  1. Very interesting post. Had never heard of the syndrome.

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    1. You are in good company - my doctor hadn't heard of it either. It's only in the last 15 years or so that this set of conditions has begun to be understood.

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  2. All this heart stuff is a worry though isn't it?
    Tom had a heart attack very early in his life and his father and mother and 2 brothers all had heart attacks. My Dad had a heart attack and my Mum had Angina, needless to say our kids are pooping themselves.
    They all seem okay at the moment and they've got to 57,54 and 50, so I'm keeping my fingers crossed for them.
    Briony
    x

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    1. Very worrying. That's partly why I took the opportunity to have the tests even though my chances of having Brugada are either 1/4 or 1/8 depending who you ask, but I realised I'd get a thorough check, at least on the electrical side of things. Does "heart attack" mean thrombosis rather than arrest? Some of the men in the other beds had had that.

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  3. Congratulations on your wisdom for following up with these tests! I have not heard of the syndrome but I know there are many heart related issues similar to that. You now have the peace of mind from doing well on the tests and that in itself can help improve your blood pressure and health!

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    1. It is not all that well known, even in the medical profession. About a dozen of these SADS conditions have now been identified. I've heard Brugada referred to as one of the "ion channelopathies" which presumably means there are others. The heart and its workings are literally incredible, a marvellous piece of bio-engineering. How could anything as complex as that possibly eveolve by chance?

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  4. Having tests for this kind of condition when they are offered is a wise decision. Glad you sailed through them.

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    1. It was quite a relief, especially to my kids.

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  5. My brother-in-law suffered a heart attack in the middle of the night about six months ago. Taken to hospital 60 miles away, no visiting due to Covid, three stents, home a week later. He's slim, fit, sensible diet, but there is a possibility of some hereditary problem there too, and other males in his family are being tested. Better safe than sorry for them and for you and yours. Glad you were OK.

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    1. A stent sounds like arterial narrowing or thrombosis. It's good they can test relatives, although, as I said, some of mine have decided not to be tested, which I find baffling.

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  6. My mum's father died of heart attack aged about 50. He had about 10 or a dozen siblings none of whom survived into genuinely old age, mostly due to 'heart stopped'. However it wasn't until a cousin died of 'heart stopped' age 27 (2 generations later) that a Dr had enough curiosity to look at family history..... and then all hell broke loose. With a family that big.... It was along the lines of the heartstopper you describe in the footballer. Fortunately Mum didn't have the gene for it and the testing was none as onerous as what you've been through. Good to hear you are clear (and your kids don't have to worry).

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    1. That sounds exactly like SADS. Is there a chance that they would carry out these tests now that these conditions are better understood? We have no (as yet) identifiable gene either. Part of my reason for writing this is to help increase awareness.

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  7. I remember I was watching the live football match. It was very distressing. It was well handled by all concerned, the tv and the crowd, as far as it could be under the circumstances.

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    1. I wasn't watching but reading about it afterwards was distressing too. Some appalling things happen now and again on the football field. At least this had a good outcome and wasn't caused by another player's over aggressive behaviour.

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    2. Terry Yorath's teenage son collapsed and died of undetected heart condition just starting his football career. Same thing.

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  8. It must be a reassuring feeling to be cleared. As is said, it is all in the genes.

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    1. It was a relief. They said I only had a small chance but they wouldn't have checked if it hadn't been a possibility.

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  9. I knew a wonderful young man named Malcolm once who simply dropped dead of a heart attack at 25 for no apparent reason. I wonder if he had this condition.

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    1. Absolutely devastating for everyone, and preventable if detected - e.g. defrib. implant. If you google SADS there are about 6 arrhythmias and several structural conditions. Could be any one.

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  10. Our younger son has a friend whose sister has Brugada Syndrome, whose mother may have died from Brugada Syndrome while in her 30s (just died while she was home alone), and his friend is currently trying to get tested, including the Ajamline test, to see if she has it. Is there a treatment or pill to keep these folks safe?

    Thanks for sharing this important information.

    Hugs!

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    1. Sounds probable that mother had it. Siblings should be tested high priority. Risk can then be assessed and if necessary they can fit a defibrillator implant - a bit like a pacemaker. If you know you've got it then it's manageable and no cause to worry unduly. Good luck to them.

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  11. Glad you were cleared and we don't have to worry about you. Also if anyone ever mentions Brugada Syndrome I shall know where to send them your explanation is so clear cut.

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    1. Thank you. Googling SADS is likely to get better quality information, but hopefully my personal experience is helpful.

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  12. That is exactly how my husband died, five days after we had celebrated his 41st birthday. No forewarning, home alone, no known health issues - heart stopped, and that was it. The doctor who came to examine him and write the death certificate told me that this happens a lot more than you'd think, mostly to men, and regardless of whether they smoke or not (my husband smoked), are fit and slim or overweight couch potatoes.
    Decades before, my husband's granddad had died that way, and two years after Steve, his older brother followed. If we had had children, I guess I would have insisted on having them tested.

    Congratulations on passing your tests! I am glad they do these things in spite of Covid. Way too much has been on hold, in terms of health care.

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    1. That's unimaginably awful, Meike. It does sound like an inherited condition. I hope it becomes more widely known so that those at risk are identified.

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  13. Good to hear that you not have the syndrome. It is distressing how often a drastic family medical history is not investigated sooner rather than later. My ex's family has a long history of heart issues. His father and all but one of five brothers died in their 40s. The other one died before he was 60--still too young. My ex had a heart attack at 42 followed by quad-bypass operation. Needless to say, I have kept after my own four children (three sons) to pay attention to their heart health. Unfortunately, at the age of 35, one had a heart attack with three stents subsequently put in place. My own father had his first heart attack at 54 and went on to have five more, dying just after his 72nd birthday. Luckily, my primary doctor of 20+ years and my cardiologist have paid careful attention to my heart health knowing my family history. Far too many folks, sadly, don't get that kind of care.

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    1. That's quite a distressing story. Have they identified any underlying cause or mechanism? Goodness, I would be eating fruit and vegetables and exercising and trying to avoid stress and everything else I could think of, although, sadly, it isn't always enough. Let's hope it passes you by and that your children keep it at bay.

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  14. An interesting blogpost. You are lucky to have had such a thorough M.O.T.. I would love to have similar check-ups myself as my father and oldest brother were killed by their hearts. Dad at 66 and Paul at 62. Naturally this makes me anxious about my own heart and longevity. However, the only check-up I have ever had was of a brief and superficial nature.

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    1. I had an aortal ultrascan (I think that's what it was) about 4 or 5 years ago at the doctor's surgery which I think are offered to all over 65s. I didn't ask, they contacted me. As for the other tests, I imagine the ECG and maybe the heart ultrascan could be done privately for £££.

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  15. Well all in all a very interesting and educational post. It's good that you had the test both for your and your offsprings' sake. Not having the test seems to me a bit like not having the vaccine: it's not just for you but for others too.

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    1. I hadn't made the comparison with the vaccine, but yes, absolutely right. It's also true that more awareness of the SADS conditions is likely to save lives. Treatable so long as you know about it.

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  16. It is daunting to hear about the premature deaths of your cousin and uncle. You have given us all much to think about as Graham said.
    I was shaken to hear Meike say that her husband had died at the age of 41 in the same way.
    Joan Didion saw her husband John Gregory Dunne collapse and die of cardiac arrest as they were seated at the dinner table.
    She wrote about it in her book *The Year of Magical Thinking* which became a play with Vanessa Redgrave.
    Haggerty

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    1. It's hard not to conclude that we ought to be putting more resources into preventable medicine and testing of all kinds than we are. It would probably save future money as well as lives. You have to have high end private health cover to get the same care offered to leading members of society.

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  17. Just reading some of the comments above reminded me that my friend's husband died of a heart condition, undetected, when in his mid 30s. They had two very young sons at the time. Her two sons now in their 40s, began regularly screening by the NHS when they were in their 20s. I think it is a question of asking to be screened in most cases, not waiting to be asked.

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    1. Glad to hear it's not being ignored. As mentioned to YP, there is a scan that the NHS offered me around age 66, but if the more thorough ones are justified you have to ask them, and be prepared to be a bit pushy.

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    2. And be prepared to put your name down and be surprised that your name may come to the top sooner than you think.

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    3. It certainly did. I suspect in my case that this service isn't getting the usual number of urgent referrals at the moment so they can catch up with the backlog.

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  18. It amazes me to read all of the similar stories. I have one too. My cousin died in his sleep 20 years ago. Just like that. His father had generations of similar stories. The men were all tested. His brother had it and surprisingly so did my ucle, who a history of mild heart problems that seemed to be coming more pronounced. Both of them have heart monitors now and there has been quite a bit of progress made in managing this. My cousin's last episode had him in cardiac icu for several days which led to him being seen at a major cardiac treatment facility where a new treatment has been tried. The surgery has changed his life dramatically. He once said 'it is a humbling thing to know that the death of my brother saved my life.'

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    1. I too am surprised that even amongst my modest readership there are so many similar stories. Again, it's good to hear people are being monitored and taken seriously. There are so many different things that can go wrong with the heart and medicine has made incredible advances in understanding and treating them.

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  19. So good to know that you don't have Brugada, Tasker!
    I think it is courageous and right to go to be tested - one has to look a fear into its eyes, and whatever the result is, it is good to know (I would make an exception with Alzheimer: to know that - without a remedy in sight - would spoil the rest of my life).
    So: I am glad to hear that you are fine - and your children will be that too!

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    1. I wasn't really afraid of the result, but would not have been surprised if it had been positive. Odd how timely this post was with the Christian Eriksen incident in the Euro football match. Pleased that he's recovered too.

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