Family Screening in the Diagnosis of Short QT Syndrome after Sudden Cardiac Death as First Manifestation in Young Siblings

Introduction

In 2000, Gussak et al., published a case series in which atrial tachyarrhythmias, syncope, and sudden cardiac death (SCD) were associated with a short QT interval, being the first to correlate all of these finding in one single study. Since then, efforts have been made to better understand the behavior of and find alternatives to treat short QT syndrome (SQTS); however, researchers face the barrier of the rarity of the disease, the difficulty in establishing diagnostic parameters, and its complex clinical manifestation. This article reports on the case of young siblings with SCD and SQTS and discusses the syndrome’s diagnostic and therapeutic difficulties.

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