Long QT

[Smiley271]

I want to know everything there is to know about long qt.  Is it genetic?  Is it associated with a genetic bilateral hearing loss?  Is there a syndrome that is out there that has those two diagnoses associated with it?  My daughter was diagnosed with bilateral hearing loss when she was 16-18 months old.  Two years she got all kinds of tests done at the U of M in Minnesota including an ECG.  We found out then that her hearing loss was genetic and she had to go for an appointment with a cardiologist to get another ECG. because the first one was abnormal.  The cardiologist said that if my daughter ever faints due to physical exertion to get her back in asap.  She has been able to play sports in school but should I own a defibrillator?  Is this the reason these kids are dropping dead on the court with no explanation?  I just want to know everything that can be known about this.  She is very active...  Thank you,  concerned parent

[dano_the_mano]

Hi I just wanted to add a few things about the genetics of Long QT.  I have LongQT, and like you went on an information binge.  As far as the genetics go, there's a lot.  There are many forms of genetically inherited LonqQT stemming from mutations on a dozen different genes.  The two most common mutated genes are the KCNQ1 gene (KVLQT1) and the KCNH2 gene (hERG).  

If your daughters hearing loss is a result of LQTS she most likely has Jervell & Lange-Nielson Syndrome, as mentioned above.  JLNS (on the KCNQ1 gene) is a recessive condition, which means that both of her parents are carriers of the condition.  If this is the case, there is a small chance (25%) that any children you two have together will inherit this same condition.  The best thing to do is to get the genetic testing done.  Its a simple blood draw and can tell you so much more than a stress test or an EKG. That will also give the doctors the best info they need to properly help your daughter.  

I completely agree with stevie_wonder's comment that the the greatest risk lies in not being diagnosed.  I am in my late 20's and have never had an episode probably due to the fact that I was diagnosed at birth and was careful all my childhood.  There's no cure for LQTS but it is definitely a managable condition if your daughter has someone looking out for her.  Best of Luck

[stevie_wonder]

I forgot to mention that Long QT Syndrome is genetic and there is commercial genetic testing available.

[stevie_wonder]

Hi,
Yes, there is a form of Long QT Syndrome (Jervell and Lange-Nielsen Syndrome) that involves hearing loss, I'm not sure of the type of hearing loss though. There are several different types of Long QT Syndrome, some involving hearing loss and some not.

Yes, this is one of the reasons that some kids die while playing sports. It is something that needs treatment ASAP. Treatment includes beta blockers, sometimes a pacemaker/ICD and lifestyle restrictions.

For a doctor to even suspect Long QT Syndrome and then send you on your merry way and say bring her in asap if she faints is absolute negligence. People who faint from Long QT Syndrome are actually having an arrhythmia called Torsades de Pointe, it is a very fast polymorphic VT that causes people to faint very suddenly, often with no warning. It can sometimes lead to ventricular fibrillation which if not treated by defibrillation will lead to sudden death.

My family has Long QT Syndrome and I was sent on my merry way by several doctors before I finally found one several months later who was able to diagnose us. Try contacting the SADS (www.sads.org) or CARE (www.longqt.org) websites for cardiologist in your area who specialize in heart rhythm disorders (Electrophysiologists). Regular cardiologists are famous for not being able to properly diagnose Long QT. If you are close to the Mayo Clinic in Minnesota, Dr. Michael Ackerman is the best Long QT specialist in North America and will often help people via email. His email address is easily found on google.

There is a lot of info on the internet on LQTS and it seems scarey at first but you will soon see that the greatest risk is not being diagnosed and treated. Once treated most people with LQTS live long and normal lives.

Hopefully your daughter will be cleared of this possible diagnosis and go on with her life but empower yourself with knowledge and keep pursuing answers until you are 100% confident with her doctor.
In the meantime, try to keep your daughter hydrated, keep her electrolytes up, especially potassium.

Please feel free to ask any other questions.