You gotta love it!

It's mid-morning and the day is just getting moving. We had a round up today and talked about Brugada Syndrome. I think this is a wonderful topic and it was presented very nicely. It was also a timely topic......

You see Dr. Look, an internist in Germany commented on the lack of medical training for human geneticists. I think he is right. In the US, Human Geneticists are PhDs whereas Medical Geneticists are Physicians who have extensive clinical training. Yet, when genetics is taught in medical school (In year one and never again) it is invariably taught by Human Geneticists.


So why is this important? Brugada Syndrome is a condition that causes dysfunction in cardiac ion channels. This pathophysiology underlies the clinical manifestations of Brugada syndrome (cardiac channelopathy). In 10-30% of patients and families, mutations in the gene SCN5A, encoding the cardiac voltage-gated sodium channel Na1.5, have been reported. It causes deadly heart rhythms. Most people present with sudden death while sleeping or resting.


More importantly the disease often occurs in adults. Most likely in 30-50 year old men in a sex skewing of 8:1 penetrance. This doesn't mean women never get it. In fact they may have the mutation but never dies of sudden death. But here is the bigger issue.......why aren't geneticists seeing this condition? In rounds today, the other geneticists said "If this disease is 1 in 2000, why aren't we seeing it? That is way higher than NeuroFibromatosis or metabolic diseases!"





They are correct. Even Long QT syndrome which is 1 in 7000 is seen more often in cardiogenetics clinic. Long QT presents in childhood and sometime early adulthood.





I have the answer....... Brugada Syndrome presents as an adult condition. Most adult doctors don't even know genetics is a specialty, so why would they refer the patient? Heck, they do hemochromatosis testing for patients, so why not add this into their repertoire???


Here's why.....the gene can have several implications for family members and internal medicine doctors are notorious for the 1 patient 1 doctor philosophy.......


We aren't just testing the patient when we do a genetic test. We ARE testing the WHOLE family!

I find this crazy that these patients are a rare bird/Zebra in cardiogenetics clinic where they deal with genetic conditions and the heart. Why?

They are likely not being identified by anyone. Yet they are seen in 1 in 2000 people, much higher than some "Common MonoGenic Diseases"

What is even more funny is that at my residency program at a sleepy 190 bed hospital, I diagnosed 2 of these by EKG and identified 2 family members by testing. In ONE YEAR..........

In fact one of the cases had been identified as having a heart attack. The whole pathway to give this patient blood thinning medication had been started. But on EKG, the diagnosis was clear. the pathway was stopped and the patient was diagnosed. But I wonder how many times people like this get a cardiac cath. You see, the EKG finding can look like a heart attack can on EKG.....

After the rounds were over one geneticist commented that at least we would be able to build awareness at a grand rounds we were giving................In Pediatrics......

The Sherpa Says: We have to go and get out in the face of Internal Medicine Docs and tell them about this condition. The best place to see them is in Internal Medicine Grand Rounds and on the wards. So I tell Doctor Look and all my other IM brethren, go learn about this condition.....you may truly save a life......and THEN refer the patient to your friendly neighborhood geneticist! We are out there, just look for us.....