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

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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?
Posted Wed, 2 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.

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