I practiced with an excellent vascular surgeon who grew up on a ranch near Kirby, Montana. His language was fairly salty. His results were very, very good, but not perfect (no surgeon’s are). He used to say that you needed 10 Attaboy’s for every Oh shit.
Even though it’s been ten and a half years since I saw patients, I had an attaboy the other day.
Last fall, the guy who works on our roof told me of a terrible tragedy that happened in his kid’s school (probably because he knew I’d been a neurologist). A 15 year-old boy, previously in excellent health collapsed while playing basketball, had a seizure and died. There was no previous history of epilepsy in the boy or his family.
Epilepsy just doesn’t act like that. People can die from an epileptic seizure if their airway becomes obstructed in the deep obtundation following a generalized seizure, or if they have serious pre-existing medical conditions. There is also something called SUDEP (Sudden Unexplained Death in EPileptics). I saw just 1 possible case in 36 years in neurology. SUDEP occurs in people with epilepsy of fairly long standing (well, over 2 years anyway).
This unfortunate young man simply had to have had a cardiac arrhythmia, due to an abnormal ion channel in his heart’s conduction system. More importantly, this is a hereditary disorder. I told the roofer I’d be glad to talk to the family about this after the funeral, and that they all needed to be checked with electrocardiograms (EKGs). He said, he’d talk to them. I heard nothing until yesterday, when he came out to assess the winter’s wreckage. He had talked to the family, and they were checked out, and that a totally asymptomatic mother and sister did have a cardiac conduction abnormality (easily diagnosable by the EKG). The EKG shows a prolonged QT interval (a technical term but easy to spot — so easy that computers analyzing EKG routinely calculate the value of the QT interval).
We know a lot more about it now. The following is pretty technical but should get you started. [ Proc. Natl. Acad. Sci. vol. 105 pp. 9355 – 9360 ’08 ] There are now 11 genes known to be associated with the prolonged QT syndrome — they account for 75 – 80% of cases. 5/11 are for cardiac ion channels (KCNQ1, KCNH2, SCN5A, KCNJ2 and CACBA1C. 6/11 code for ion channel subunits (what’s the difference?) or channel interacting proteins — ANKB, KCNE1, KCNE2, CAV3, SCN4B, AKAP9