Family History of Brugada Syndrome – My Story, Part 3

Editor’s note: This is the third article in a three-part series. The first is "Family History of Brugada Syndrome, My Story (Part 1)."

The “challenge” – 2020

“If a person has a family history of sudden death or cardiogenic syncope, and has a Brugada ECG pattern, we must take steps to protect him...” –  Dr. Josep Brugada ¹

The nurse calls me back. “Right this way, and we’ll get you started for your procedure—” he paused. “Well, actually it’s more like a… challenge!”

“That sounds like reality TV,” I remarked, trying to keep the conversation light.

“Like Survivor!” he said, and I don’t think he realized the full connotations of picking that particular show. One of the risks of the “challenge” was implied when my electrophysiologist mentioned that they kept a defibrillator nearby.

My family history

I was about to get the “procainamide challenge,” which would show if I was positive for a Type 1 Brugada rhythm. They inject a medicine, called procainamide, and check the patient’s electrocardiogram (ECG). I was getting this test because of my family history of a genetic heart condition. My dad had been diagnosed with Brugada syndrome a few years prior and had been successfully treated with an implantable cardioverter-defibrillator (ICD). Since his doctor did need to defibrillate him during his own challenge, he was indeed a Survivor.

I hadn’t been sure if I’d wanted to go through with the test. My doctor mentioned it when I was pregnant, so I’d had some time to think. I didn’t have any of the symptoms my dad had prior to diagnosis—blackouts, lightheadedness, and not feeling rooted on earth, to name a few—and my ECG, while showing a slight abnormality called a right bundle branch block, was not significant in and of itself. Even if I did show a positive result, I wouldn’t need an ICD unless I experienced symptoms in the future.

It all felt very confusing. Before committing, I decided to see my dad’s doctor since he knew my dad’s larger medical history.

Before the Test: Seeking An Additional Perspective

“Can you do it once more, but position the leads a little higher on her chest?” Said Dr. A. to the nurse who was performing my ECG. This is new, I thought.

I’m not sure if Dr. A. remembered me, as he had given my brother and I ECG’s years back, but he definitely remembered my dad. “Your ECG is not unlike your father’s,” he said.

My stomach dropped, but then he explained that my dad only had the specific Brugada pattern during his drug challenge. He wasn’t saying that I have a Brugada ECG pattern and my ECG was insignificant in and of itself. However, he agrees the procainamide challenge is a good idea.

“My dad joked that he ‘died’ when you gave him that test,” I said.

“He may have been exaggerating…” said Dr. A.

He explained that the results just determine how closely to monitor me, and I knew this could be my ticket out of a million doctors’ appointments. I’ll take the test, they’ll see I’m fine, and I won’t have to follow up.

Dr. A. said I was all set to follow up with either him or Dr. C. to schedule the test. Before I left the room, he paused.

“You don’t do any extreme sports, like ironman events, right?” he asked as if simply inquiring about my hobbies.

“No…” I replied.

Back to the Challenge

“Bringing your heart breaking the shell / Go ahead and defibrillate yourself”  –  Andrew Bird, Eyeoneye

“The main risk of this test is boredom,” said Dr. C., as the nurse pushed the medicine into my IV.

Wires connected to my chest and back, pinning me down. The nurses had stuck the IV needle in the top of my hand because no nurse can get an IV into my arm ever, and they had plugged an oxygen measuring device over my left finger—my texting finger. It was a bit hard to update family or do anything, with all my extra robotic appendages.

Dr. C. looked at the ECG printouts with the nurses and cardiology resident and circled a few places. I couldn’t see the paper but I strained my ears.

“Here. The slope…” he pointed. “…it compares to a Type 2 or 3,” he said. He looked up at me.

“We’re talking about you, but we should probably talk with you now,” he said, approaching my bed.

He showed me the printouts. “This is your baseline ECG—take a look at this plateau here,” he pointed, and then switched to another sheet. “This is with the procainamide. See how that plateau is missing and the line drops down?”

It looked like the ECGs I’d seen of Brugada on the internet. “So, what’s that, a Type 2 or 3 pattern?” I asked, knowing that only a Type 1 is conclusive.

“It’s a Type 1,” says Dr. C., and I pout my lower lip out.

“This is good, though,” explained Dr. C., calmly. “We wanted to see if the pattern emerged, and now that it has, we can keep a closer eye on things.”

This meant more monitoring, more tests, and possibly genetic counseling for my family. I took out my phone, and despite my lack of good texting fingers, scolded my dad for giving me his weird genes.

On the Other Side of Diagnosis

In my head, this put me on the other side of a wall. I had firmly believed it would all amount to nothing, but this wasn’t nothing; though it wasn’t necessarily “something” either. I was grateful for my physicians' thoroughness, and the research and guidelines to help them proceed with someone in my situation, but I wasn’t sure what to make of the results. What exactly did this mean for me or my family? I guess now that I had a heads up, I would hopefully have time to figure it all out.

“Surely, in 25 years we will be able to identify the problem in the gene and repair it by cutting and pasting a new gene.” – Dr. Josep Brugada ¹