Long QT syndrome panel




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Long QT syndrome comprising a set of type congenital cardiac disorders associated with mutations in genes, that encodes ion channels, under an autosomal dominant inheritance pattern.
The long QT syndrome is characterized by a number of associated features such as polymorphic ventricular arrhythmias (able to cause seizures, syncope or sudden death) QT prolongation and T wave abnormalities
In 46% of cases, the disease is caused by mutations in the gene encoding a KCNQ1 potassium channel. However, there are also a number of associated alterations in different genes, which would lead prolonging the action potential duration. Mutations have been reported in: KCNE1, KCNE2, KCNH2, KCNQ1, CACNA1c, CAV3, SCN4B, SCN5A.
Symptoms and signs of disease are clear. However, in some instances will require a more specific approach for patients with atypical syndrome. The molecular test is included in the diagnostic process.
It is considered a prevalence of 1 per 3000-7000 individuals.
Treatment of the disease should be initiated with beta-blockers, and if the patient has episodes of syncope despite higher dosing of beta-blockers, It is advisable to make a left cardiac sympathetic denervation in addition to treatment with implantable cardioverter-defibrillator.
Although the prognosis is favorable, there are some serious variants disease such as Timothy syndrome (# 601005) and Jervell and Lange-Nielsen syndrome (# 220400), among others. Bioarray has a NGS panel for the sequencing of the genes linked to the onset of the disease.
You can find more about the different types of long QT syndrome in their sections.


Tomado de GeneReviews




Autosomal dominant