Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know

Mary C Niu; Susan P Etheridge; Martin Tristani-Firouzi; Christina Y Miyake

doi:10.1016/j.ccep.2023.10.006

Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know

Card Electrophysiol Clin. 2024 Jun;16(2):195-202. doi: 10.1016/j.ccep.2023.10.006. Epub 2023 Nov 10.

Authors

Mary C Niu¹, Susan P Etheridge¹, Martin Tristani-Firouzi¹, Christina Y Miyake²

Affiliations

¹ Department of Pediatric Cardiology, University of Utah and Primary Children's Hospital, 100 Mario Capecchi Drive, Salt Lake City, UT 84113, USA.
² Department of Pediatrics, Division of Cardiology, Texas Children's Hospital and Baylor College of Medicine, 6651 Main Street, Houston, TX 77003, USA. Electronic address: cymiyake@bcm.edu.

PMID: 38749641
DOI: 10.1016/j.ccep.2023.10.006

Abstract

The case series reviews differential diagnosis of a genetic arrhythmia syndrome when evaluating a patient with prolonged QTc. Making the correct diagnosis requires: detailed patient history, family history, and careful review of the electrocardiogram (ECG). Signs and symptoms and ECG characteristics can often help clinicians make the diagnosis before genetic testing results return. These skills can help clinicians make an accurate and timely diagnosis and prevent life-threatening events.

Keywords: Andersen-Tawil syndrome; CALM; Calmodulinopathy; Long QT syndrome; Prolonged QT; QTc; TANGO2; Timothy syndrome.

Publication types

Review

MeSH terms

Adolescent
Arrhythmias, Cardiac* / diagnosis
Arrhythmias, Cardiac* / genetics
Arrhythmias, Cardiac* / physiopathology
Child
Diagnosis, Differential
Electrocardiography*
Female
Genetic Testing
Humans
Long QT Syndrome* / diagnosis
Long QT Syndrome* / genetics
Long QT Syndrome* / physiopathology
Male