Get your Health question answered in 3 easy steps
A Doctor will be with you shortly
Ask a Doctor Now
176 Doctors are Online

Early death of husband, Genedx found CACNB2 mutations in both children. Short QT syndrome ?

User rating for this question
Very Good
Answered by

Internal Medicine Specialist
Practicing since : 1998
Answered : 1579 Questions
My 29-year-old husband dropped dead 8 years ago and now Genedx has found CACNB2 mutations in both of our daughters, now 7 and 9. Is this an indicator of Short QT Syndrome?
Tue, 22 May 2012 in Child Health
Answered by Dr. Jasvinder Singh 4 hours later

Thanks for posting your query. I can understand your concern for your daughters but if CACNB2 mutation has been found then it is not an indicator of short QT syndrome but it signifies Brugada syndrome.

Short QT syndrome consists of a short QT interval on an EKG. Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome. But in Brugada syndrome, there is CACNB2 mutation. In some cases, the disease can be detected by observing characteristic patterns on an electrocardiogram.

It is responsible for sudden cardiac death especially in young people. There is no specific treatment but preventive measures to control any ventricullar fibrillation and hence cardiac arrhtyhmias can be done. This includes medicines like quinidine and via implantation of an implantable cardioverter-defibrillator (ICD), which continuously monitors the heart rhythm and will defibrillate an individual if ventricular fibrillation is noted.

Please discuss this syndrome with a cardiologist and the treatment options available.
Hope this answers your query. If you have additional questions or follow up queries then please do not hesitate in writing to us. I will be happy to answer your queries.

Wishing you good health.

Above answer was peer-reviewed by
Share on Facebook
Share on Twitter
Share on Google+
Question is related to

The user accepted the expert's answer

Ask a Pediatrician

© Ebix, Inc. All Rights Reserved.
All the information, content and live chat provided on the site is intended to be for informational purposes only, and not a substitute for professional or medical advice. You should always speak with your doctor before you follow anything that you read on this website. Any health question asked on this site will be visible to the people who browse this site. Hence, the user assumes the responsibility not to divulge any personally identifiable information in the question. Use of this site is subject to our Terms & Conditions
Already Rated.
Your rating:

Ask a Doctor