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

 

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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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