Hi Robin,

First, put your coffee down....

Right!?  Sure!  Right!?

You flatter me.  Dies this cardiologist really believe that I can assist
him in interpreting an ECG by reading the text description??  Does this
person think that I could do any better by seeing the ECG????

The first step in all this is an accurate cardiologic diagnosis.  If
they are unsure as to the diagnosis, they should refer the patient to
another, more experienced cardiologist, to get one.  Once they have an
accurate diagnosis, then testing can proceed.  There is no way that
testing should be performed before a diagnosis is established.  I know
that you know this, but please inform the cardiologist that: the testing
is not performed to rule in or rule out a suspected diagnosis.  It is
performed to provide accurate counseling.  Big difference.

J


-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Tuesday, May 19, 2009 9:27 AM
To: [log in to unmask]
Subject: help with a possible channelopathy

I would appreciate any guidance with the following case:
 
I had a call from an adult cardiologist yesterday requesting guidance on
testing a 37 year old woman for possible channelopathy.  She has a
history of multiple fainting episodes, with neurology workup that was
normal.  She presented to the ER yesterday with another episode and was
admitted.  She has an abnormal EKG as follows:

EKG here initially at 12:10 showed junctional rhythm at a rate of 53
beats per minute. The axis 180 degrees, interval QRS duration is 84
msec, QT was 490 msec, QTC was 0.59 msec, nonspecific ST-T wave changes,
inferior. Repeat EKG on May 18, 2009 at 13:13 shows the patient in sinus
rhythm with isorhythmic AV disassociation. The QRS duration is 82 msec,
QT interval was 506 msec. QTC was 457 msec. There are nonspecific ST-T
wave changes anterior as well as inferior. CLINICAL IMPRESSION: History
of recurrent syncope. The patient does have abnormal EKG with the one
from earlier this morning at her local physician's office at 9:18 a.m.
showing isorhythmic AV disassociation. EKG here initially on arrival
shows a junctional rhythm at a rate of 53 beats per minute. Later repeat
EKG at 13:13 shows sinus bradycardic with AV dissociation. 

In addition, she has some degree of SNHL since childhood, as does her
daughter, her sister, her sister's son, and also her father.  The
cardiologist did not feel her EKG was consistent with a true Long QT,
but questioned the possibility of Jervell and Lange-Nielsen however that
doesn't quite fit.  Echos are not really something I am comfortable with
interpreting.  Given the cost associated with DNA testing, can someone
help guide me as to whether I should start with KCNQ1/KCNE1? the gap
junction genes? Get a hearing test while she is an inpatient to clarify
the loss?  

Thanks!

Robin

 

************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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"There are only two ways to live your life. One is as though nothing is
a miracle. The other is as though everything is." -- Albert Einstein