Congenital Long QT Syndrome (LQTS) in Infancy: A Challenging Case

TL;DR

This paper presents a case of congenital Long QT Syndrome in an infant and highlights the importance of early diagnosis to prevent life-threatening arrhythmias.

Contribution

The contribution is a case report emphasizing the need for awareness and thorough evaluation in diagnosing congenital LQTS in infancy.

Findings

A two-month-old female presented with blueish discoloration and a family history of early death, suggestive of LQTS.

The case highlights diagnostic challenges due to overlapping symptoms with common pediatric illnesses.

The paper stresses the importance of family history and thorough evaluation for early diagnosis of LQTS.

Abstract

Long QT syndrome (LQTS), is an arrhythmia disorder, related to ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram that can lead to symptomatic ventricular arrhythmias and increase the mortality rate. The prevalence of congenital LQTS is about 1 in 2000 live births.

Here, we report the case of a two-month-old female, with a significant family history of early death, who was brought to our emergency with an episode of blueish discoloration. The initial workup was positive for COVID-19 in the respiratory panel, so she was admitted as a case of bronchiolitis. It was a challenge because of the overlapping presentation between a serious condition and other common pediatric illnesses.

Furthermore, the paper aims to increase awareness of this condition among physicians and emphasizes the importance of obtaining a complete medical history, physical examination, and family screening in selected cases to facilitate early diagnosis and timely management.

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