Brugada Syndrome Studies

I like to scan the web for new articles about Brugada Syndrome. Here are a few:

This first study takes a closer look at the presence of these telltale waves on ECGs of Brugada patients. The purpose was to prospectively evaluate the spontaneous ECG changes between diagnostic and non-diagnostic ECG patterns in patients diagnosed with Brugada Syndrome.

They looked at over 300 ECGs of 43 diagnosed patients, and noticed that over time, some ECG were non-diagnostic, and then the waves reappeared. Only one patient showed consistent patterns of the coved-type ECG pattern. This has significant implications for determining relative risk, and correct phenotyping.

Here is another study. Now this link is to another blog. Not to discredit we bloggers, but please remember to consider the source. If an article I site or quote from interests you, please check out the primary source and don't be satisfied with comments on a blog. I'm not a health care professional. Just the mother and wife of two people with Brugada Syndrome! Anyway, the study in this article is interesting because it's a look at 220 Brugada patients with ICDs and the frequency of shock therapy, both inappropriate and appropriate. Seems as though inappropriate shocks happened 2.5 more frequently than appropriate ones. That is just terrible! Still, I don't think anyone wants to consider not having an ICD if you have a confirmed diagnosis.

Article on Brugada Syndrome in November's Discover Magazine

That's right. A physician who runs an Emergency Department tells the story of a healthy man with syncope being sent home because his tests are normal. Even though another doctor notices something unusual on the ECG, the patient is sent on his way.

It turns out he has Brugada Syndrome. Don't worry, the ending is good. And this short article give a brief, no-nonsense summary of the history of the disease along with the reasons that its diagnosis can be so difficult. It is rare - he cites the statistic of less than one half of one percent of people in the United States may have Brugada.

Still that number is too large to ignore, methinks.

In other news, I listened to a speech by Phil Romano last week. He was the keynote at a local annual dinner. He is a restauranteur, and developed Fudruckers, Macaroni Grill, and others. He's from this town. Anyway, he's a good speaker and storyteller. He's also a venture capitalist, and his interest is in medical research. One idea he funded and sold to Johnson & Johnson (for millions, I might add) was for a cardiac stent. Currently, he's invested in the development of a chip that can read glucose levels transdermally. It could fit inside a watch, perhaps, someday. I am grateful for the Phil Romanos in this world. I don't know where we'd be without them.

Brugada Syndrome and Atrial Flutter: Is There A Correlation?

I've always wondered about the relationship between atrial flutter or atrial fibrillation and Brugada Syndrome.

In fact you can read article after article about Brugada Syndrome and find nary a mention of atrial flutter.

Back in 1985 my husband went to the doctor for a routine check-up and was discovered to have atrial flutter. The cardiologist told him that some people spontaneously develop conditions and since he was otherwise healthy, the best thing would be to manage the flutter with digoxin.

Fast-forward to 2004 when our son was diagnosed with atrial fibrillation at age 16. He was cardioverted back to normal rhythm. The photo above was taken after he was shocked. The paddles left burns on his chest and back. He was anesthesized first, of course! The pediatric cardiologist was very interested in the family history. And they decided to manage my son's rhythm with digoxin as well.

Six months later both father and son had ICDs implanted for protection against sudden death after their Brugada Syndrome diagnoses. And my husband also was ablated to repair his atrial flutter.

Today my husband had his first appointment with his new cardiologist, Dr. Ramon Brugada. (Yes, the very same Dr.Brugada whose brothers identified the syndrome originally and who has authored so many studies on the disease.) After studying the ICD readings Dr. Brugada reported that my husband has been in atrial flutter off and on over the past six months, sometimes for ten consecutive days. For now, we are taking a wait-and-see approach, and if he has more incidences he will have to be ablated again.

So back home I began to search around to see if anyone has studied this connection between atrial flutter and BS. I found one article and plan to keep looking for others. This article identifies a higher incidence of atrial flutter or fibrillation in BS patients than the general population, but the most interesting part of the study is that they conclude that the most serious cases of Brugada Syndrome are the ones with atrial flutter. Not something that makes me feel good!

When my husband told me about his appointment at first I was pretty concerned about the flutter - I thought he was out of the woods at least regarding his atrium! But apparently you can develop new flutters even after being ablated. At least we have some explanations now for some weird sensations he's been having, sometimes after he's been traveling long distances.

Dr. Brugada also saw our son today, because of the familial connection, and took ECGs of both men. He is so knowledgeable and interesting it is wonderful to know that he's my husband's doctor.

I cannot relax.

My son and husband were diagnosed with Brugada Syndrome over a year ago. There is no cure. They both have been fitted with ICDs (implantable cardiac defibrillators). They see their physicians on a regular basis for check-ups, and are doing fine. They seem to have adjusted well to this diagnosis and follow-up treatment, which mainly consists of checking their health, and keeping their ICDs functioning and up-to-date.

Brugada Syndrome really has no symptoms. There is no outward sign of the disease. So, the drama of the diagnosis and ICD has settled into routine management of a serious, but not limiting, condition.

Still I cannot relax.

Why?

Because I have two children. My son is 18 and daughter, 23 (above, 1989) and they share identical genetic make-up from their parents. In a few years, they will begin families of their own. What about their babies? Will they be screened for Brugada Syndrome after they are born? What if there is still no treatment or cure? Will they, too, face a lifetime of re-checks and surgeries for their ICDs as their little bodies grow?

And, what if they are screened and the Brugada pattern does not appear on their EKGs? Does this mean that they don't have the Syndrome - and we can relax? Or does it mean that it simply hasn't show up yet? And if that's the case, how often then should they be screened? Should the family also be concerned about sudden infant death, which has been associated with Brugada? How is the risk different for infants of Brugada patients and their siblings who manifest the Brugada pattern, and those who do not?

No, I can't relax until there is more known about this disease and about how to treat it. I can't relax for my husband or my son or my future grandchildren, or the grandchildren of other Brugada patients and their families.

If you have Brugada Syndrome, you might consider participating in the genetics study. You can read about it at www.brugada.org. And of course, I hope those who can contribute financially to the foundation established by the Brugada family, will do so!

Brugada Syndrome is the subject of at least two books, one published last year.


The Brugada Syndrome: From Bench To Bedside , by Charles Antzelevitch (editor), Pedro (Ph.D.) Brugada (editor), Joseph (M.D.) Brugada (editor) and Ramon (M.D.) Brugada (editor) is currently available to purchase at all the major outlets. It is a bit dry reading for the mainstream audience, but I think family physicians, internists, E.R. staff and pediatricians should own it to use as a reference resource in their office. And Brugada Syndrome patients and their families might find the book interesting on a personal level.

Not a huge seller, Amazon currently ranks it #1,479,777 in book sales.

Dave had a check up at the cardiologist office today.

Everything went well even though the doctor discovered one "event" that happened last month. His ICD picked up a reading of acceleration and began to track the heart's activity. Upon investigation, they realized that this happened the day Dave was packing up his car to come home for Thanksgiving break, and probably took the stairs a couple of times instead of waiting for the elevator.

That's ten flights each time.

His heart rate was fine, he didn't even begin to approach tachycardia. The doctor speculated that the heartrate threshold programmed in the ICD was a bit too low for someone Dave's age and activity level, and raised it.

So, he's doing well, the ICD is working properly and Dave doesn't have to go back again until May. Good news all.

Brugada.org has a new forum for those with questions about Brugada Syndrome.

Check it out!

Nothing much new to report here. I've become aware of how much trouble my husband has sleeping since he had his ICD implanted a year ago. He's always slept on his left side, and he's 54 years old. Well his ICD is on the left side of his chest and so he often tosses and turns all night. When he does sleep successfully on his left side, he said that the site of the implant aches the following day.

Not sure there is really a solution to this problem, but anyway, it's too bad. Maybe we'll look into some sort of sleep aid like a special mattress to retrain his body to sleep on the right side.

Oh...did I mention that when he doesn't sleep well...I don't sleep well either??