Specific Therapy Based on the Genotype in a Malignant Form of Long QT3, Carrying the V411M Mutation.

Abstract

Congenital long QT syndrome (LQTS) is a cardiac channelopathy that leads to the prolongation of the QT interval. This prolongation can lead to ventricular tachyarrhythmia, syncope, and sudden cardiac death. There are various types of LQTS. Treatment of LQT1 and LQT2 is mainly based on antiadrenergic therapy. LQT3, on the other hand, is a result of a mutation of the SCN5A gene, which encodes the sodium channels. In this type, patients are sensitive to vagal stimuli and episodes tend to occur at rest. Sodium channel blocking compounds, such as ranolazine, mexiletine, and flecainide, have been found to be effective in selective mutations.In this case report, we report the case of a child with congenital LQT3 (V411M) who presented first with sudden cardiac death and three weeks later with an implantable cardioverter defibrillator storm. Knowing the specific mutation and understanding the mechanism at the molecular level through an in vitro study yielded a clinically meaningful result. The patient's arrhythmia burden was totally eliminated following successful treatment with flecainide.

• Authors: Miry Blich, Asaad Khoury, Mahmoud Suleiman, Avraham Lorber, Lior Gepstein, Monther Boulous
• Journal: International heart journal (Int Heart J) Vol. 60 Issue 4 Pg. 979-982 (Jul 27 2019) ISSN: 1349-3299 [Electronic] Japan
• PMID: 31257342 (Publication Type: Case Reports, Journal Article)

Chemical References

• NAV1.5 Voltage-Gated Sodium Channel
• SCN5A protein, human
• Voltage-Gated Sodium Channel Blockers
• DNA
• Flecainide

Topics

• Child
• DNA (genetics)
• DNA Mutational Analysis
• Electrocardiography
• Female
• Flecainide (therapeutic use)
• Humans
• Long QT Syndrome (diagnosis, drug therapy, genetics)
• Mutation
• NAV1.5 Voltage-Gated Sodium Channel (genetics, metabolism)
• Voltage-Gated Sodium Channel Blockers (therapeutic use)