“A lot of people ask me how I knew something wasn’t quite right with my heart. It’s hard to answer, because I’ve suffered with palpitations and chest pain for years, but they didn’t concern any of the cardiologists I saw.”
In fact, Alicia Burns’ doctors didn’t get concerned for 14 years, despite many consultations and tests for her distressing and ongoing symptoms.
Alicia, now a 34-year old mother of five children, tells the harrowing story of the moment she first heard the words Brugada syndrome.
Last December, she’d been to see a cardiologist called a cardiac electrophysiologist (EP) – an expert in heart rhythm disorders – who mentioned for the first time the deadly heart condition called Brugada syndrome: “It’s very rare, and there is no cure”.
Her EP ordered a raft of tests, including genetic testing. A month later, Alicia had to go back to get the results of all the testing:
“The doctor stated my name and date of birth to confirm that the genetic testing results were mine, and I confirmed it.
“He said: ‘Then these are your results.’
“Fine, I figured, just tell me already.
“It says a mutation has been detected.”
“Okay, well what does THAT mean?”
“It means you are positive for Brugada.”
“My breath left my body, my heart raced, the tears came gushing down, and my body started shaking. Almost incoherent, I said: ‘I HAVE IT??!!’ He just nodded. The nurse jumped up and ran out claiming I needed tissues, but I could see she felt very bad for me because she is my age and has four kids, and it could easily be her getting such news.
“The sky crashed in on me, the room got small, I just sat there crying like I was in a dream. That must be it! It’s a dream! That’s all this was, a nightmare. It will go away. Someone please wake me up.
“I walked outside to my car, feeling defeated, old, broken, defective. Life will never be the same. There was yesterday, and now there is today.”
Before she left the office that day, Alicia and her doctor discussed the next step now that a Brugada diagnosis had been confirmed: surgically implanting a medical device called an implantable cardioverter-defibrillator (ICD).
Alicia had her ICD surgery on March 6th, 2013 – 19 days after her diagnosis. Here’s how she describes that waiting period:
“It was 19 days of mental torment, torture, disbelief, crying, denial, anger.
“I froze. My life froze. I didn’t want to eat, cook, clean, go out, go to the gym, do the things I usually do. I suffered and read and cried all day and night. I woke up scared to death and went to bed even more afraid, wondering if I would wake up.”
According to Mayo Clinic, Brugada (pronounced brew-GAH-dah) syndrome is a potentially life-threatening heart rhythm disorder. It was only in 1992 that two European cardiologists, Pedro and Josep Brugada, recognized this abnormal heart rhythm as a distinct clinical entity that can result in sudden cardiac death. Dr. Ramon Brugada is also a cardiologist like his brothers who shares their interest and expertise in this disease; in fact, it was Dr. Ramon who confirmed Alicia’s Brugada diagnosis when he was sent a scan of her distinctive EKG.
The EKG has a unique pattern called the Brugada sign. It may seem as if the patient is having a heart attack because there is an elevation of the heart’s ST waves, and many times a Right Bundle Branch Block (RBBB) – a delay or obstruction along the pathway that electrical impulses travel to make the heart beat.
Here’s an example of the telltale EKG signs of Type 1, Type 2 and Type 3 Brugada syndrome. Alicia’s is Type 1, considered the most serious form of the disease; this test result along with her family history and genetic test results confirmed her diagnosis. (In May, new guidelines were presented to cardiologists attending the Heart Rhythm Society meetings in Denver, Colorado that redefined diagnosis of Brugada syndrome based on EKG alone).
Yet even though Alicia had what looks like the trifecta of positive criteria to confirm Brugada, she spent 14 years having her cardiac symptoms ignored or misdiagnosed by cardiologists:
“These cardiologists had also seen these abnormalities on my EKG, but since all other cardiac tests (holter monitor, echocardiogram, e-cat, blood tests) were normal, they wrote it off as a benign RBBB.
“Then I finally saw the electrophysiologist who is better trained to read an EKG, and he picked up on it and ordered the genetic test.”
But not every case of Brugada is picked up through genetic testing. It’s estimated that only about 30% come back with a positive test which, as Alicia explains, can certainly complicate accurate diagnosing:
“This is a congenital heart defect, but not physical. My heart is structurally normal. It’s a genetic heart defect that causes problems in the sodium and calcium channels that control heart rhythm. So I was born like this, but it manifested in my 20s and only gets worse with age – and science has not given a reason for that yet.”
The Brugada arrhythmia causes the bottom chambers of the heart (the ventricles) to beat so fast that they can prevent the blood from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset.
But if the patient has an ICD implanted, the device monitors the heart for any sign of the irregular heartbeat of VFib and can deliver a shock to the heart to prevent sudden cardiac arrest.
Not every Brugada patient is an appropriate candidate for an ICD. The decision to implant this device depends on a number of factors (for example, the severity of the EKG, genetic testing results, and whether they have personally had sudden cardiac arrest or had early cardiac death in the family). A 2010 Harvard study, for example, suggested that patients with Brugada syndrome without any prior cardiac arrest seem to be at low risk for long-term occurrence of deadly ventricular arrhythmias. And ICD placement also carries with it the risk of device-related complications and inappropriate shocks.
Many people who have Brugada syndrome don’t have any symptoms, so are utterly unaware of their condition. Others, however – just as Alicia did – do report signs and symptoms that could mean Brugada, including:
- irregular heartbeats or palpitations
- stopped heartbeat (sudden cardiac arrest)
Brugada syndrome signs and symptoms are similar to some other heart rhythm problems, so it’s essential that you see your doctor to find out if Brugada or another heart rhythm problem is causing these symptoms if you experience them.
Brugada is a rare heart disease (affecting just 5 in 10,000 people) that usually affects people like Alicia in their 30’s, although it is much more common in men than in women.
And as Alicia was to learn, it’s almost always an inherited condition.
Four years before her own diagnosis, on a sunny day in May, Alicia’s 55-year old father Robert returned home from work and mowed the lawn. Later, his wife described looking out the window at him “napping peacefully under the tree in the lovely back yard after a hard day’s work”. But when he didn’t respond after she called his name, she went outside to wake him up. Robert was dead. Sudden cardiac arrest was the official cause of death. It’s now believed that it was Brugada syndrome that caused his heart to stop.
Her Dad’s sudden death alarmed Alicia enough to go back to cardiologists four years ago to get her ongoing cardiac symptoms checked out – again. She was told:
“Nothing is wrong! Your EKG is a little abnormal. Increase your potassium by eating bananas and leafy greens, stay hydrated, avoid stress, and get a good sleep.”
Alicia knows that her Dad’s mother had several fainting episodes before her death. She now believes her grandmother likely had Brugada too, and had passed it on to her Dad. The Brugada gene rarely skips a generation.
In most cases, an affected person has one parent with the condition. But other cases may result from new mutations in the gene, occurring in people with no history of the disorder in their family.
And this family connection goes both ways. Since her diagnosis, two of Alicia’s five children – her 4-year old and 17-year old daughters – have also been diagnosed with Brugada syndrome. Her mother – the only other person who could have passed on the inherited Brugada gene to her – was also tested, but does not have the disease.
Although we know that not everybody who has Brugada will develop dangerous arrhythmias, Alicia’s immediate maternal reaction to this news about her own children was understandable:
“I had researched and researched this and knew how likely it is for Brugada to be passed down to my children. It has a hereditary rate of 50% which is very high. I told everyone: ‘I bet two or three of them have it’ – and damn it, I was right.
“I felt depressed and in a state of shock, anger and disbelief. I don’t want to hear that I’m lucky all five of my children don’t have Brugada. It would have been catastrophic if they all had it, but it hurts just as bad to know that ANY of them have it.”
Alicia explains that most children diagnosed with Brugada syndrome have no symptoms. Brugada instead “sneaks up on you later in life”.
“Is it good news they don’t need an ICD implanted right away? Sure it is! Does it mean they will never need one? Not at all. This is a waiting game. Wait for them to get older, monitor them over the years, and wait for the symptoms to show up and they will be in the same spot as me.
“For now, we see the doctor every six months and get EKGs and holter monitors, and EKGs while they have a fever to see if they can uncover a bad EKG.
“We follow the rules: watch the heat, look out for fevers, keep hydrated, mind your electrolytes, take an external defibrillator wherever we go, stay active and heart healthy. That’s about it. Of course, if symptoms show their ugly face sooner, intervention is needed.”
Meanwhile, Alicia has launched a blog called Brugada Girl. Like most people (even heart patients who blog about women’s heart disease!), I knew virtually nothing about Brugada syndrome until I happened upon Alicia’s story there.
For now, she is considered asymptomatic (meaning she hasn’t fainted, has not experienced cardiac arrest, has never gone into ventricular fibrillation (V Fib) or extreme tachycardia). But she does experience frequent palpitations, flutters, breathlessness and pre-ventricular contractions (PVCs) – essentially an extra heart beat here and there.
Night is when all of her symptoms come out, and can cause insomnia. As Alicia says: “It’s during times of rest and sleep that Brugada steals you.”
Risk factors for Brugada syndrome include:
- Family history of Brugada syndrome: If other family members have had Brugada syndrome, you’re at an increased risk of having the condition.
- Being male: Adult men are more frequently diagnosed than are women. In young children and adolescents, however, boys and girls are diagnosed at about the same rate.
- Race: Brugada syndrome occurs more frequently in Asians than in other races.
- Fever: While having a fever doesn’t bring on Brugada syndrome itself, fever can increase the risk of fainting or other complications of Brugada, especially in children.
Alicia Burns is my very favourite kind of heart patient. Unlike so many other women I’ve met who are living with heart disease, she has become a world expert on her diagnosis. In fact, she quite likely knows far more about Brugada syndrome than most physicians do because of her lived experience, her relentless researching, and how rarely the average doctor would even see a patient with Brugada during an entire medical career.
As another of my blog readers wrote of her own medical team:
“It’s their business, but it’s my life!”
When I congratulated her on this encyclopedic knowledge of Brugada syndrome, Alicia replied:
“My mother is an RN and I think she fed me that need to research everything to death in order to be informed. I need to know what happened to my father, what’s happening to me, and be completely knowledgeable for my children.
“Sticking my head in the sand and staying ignorant as some people do is not an answer. Brugada is like wildfire on a family tree, and many others will pop up having received the gene from my father’s side so at least one person in our family should know what they are talking about!
“Some people just don’t get it, or maybe they don’t WANT to get it because ignorance is bliss.”
Alicia’s compelling story reinforces how much she has had to learn in a very short time. It’s been barely six months since she was diagnosed with Brugada syndrome, and only five months since an ICD was implanted in her chest. During that short time, she’s joined a very exclusive club that nobody ever wants to join, and worse, she now knows that two of her children are club members, too.
Her emotional response to this journey is unique to her, yet also familiar to everyone who’s heard a shocking diagnosis delivered from the lips of any physician. Many health care professionals are simply unconscious of the profoundly traumatic impact that this delivery can have on a person. As Alicia describes the days between her own diagnosis and ICD surgery:
“I lost 19 days of my life not wanting to face the truth when I should have just held my chin up and done what I needed to do.
“But in hindsight, my reaction was normal. Totally normal.
“You can’t go from healthy to staring down the barrel of a gun and NOT feel something. My best advice is let your emotions run amok, let them out, feel every emotion you need to feel, purge it all out – and eventually you get to a point of peace and determination.
“I’m well on my way…”
And here’s what cardiologists want patients to know about adjusting to an ICD (via WomenHeart: The National Coalition For Women With Heart Disease)
Learn more about the rare diagnosis of Brugada Syndrome.
Q: Have you or someone you know been diagnosed with Brugada syndrome?
- What heart patients want ICD makers to know
- Looking for meaning in a meaningless diagnosis
- “To just be a person, and not a patient anymore”
- There is no “Fair Fairy” in life
- When survivors feel depressed instead of lucky
- “Welcome to Holland!”
- Coping with your partner’s ICD and heart disease
- Do you know the difference between a pacemaker and an implantable defibrillator?
- How a heart attack turned me into an “information flâneuse”
- How we adapt after a heart attack may depend on what we believe this diagnosis means
- Six personality coping patterns that influence how you handle heart disease
- Feature interview with Alicia Burns in the medical journal EP Lab Digest