Review article

https://doi.org/10.20471/acc.2021.60.04.22

Congenital Long QT Syndrome: a Systematic Review

Edvard Galić ; School of Medicine, University of Zagreb, Zagreb, Croatia; Sveti Duh University Hospital, Zagreb, Croatia
Petar Bešlić ; Sveti Duh University Hospital, Zagreb, Croatia
Paula Kilić ; Sveti Duh University Hospital, Zagreb, Croatia
Zrinka Planinić ; Sveti Duh University Hospital, Zagreb, Croatia
Ante Pašalić ; Sveti Duh University Hospital, Zagreb, Croatia
Iva Galić ; School of Medicine, University of Zagreb, Zagreb, Croatia
Vlado-Vlaho Ćubela ; Merkur University Hospital, Zagreb, Croatia
Petar Pekić ; Sveti Duh University Hospital, Zagreb, Croatia

Abstract

Congenital long QT syndrome (LQTS) is a disorder of myocardial repolarization
defined by a prolonged QT interval on electrocardiogram (ECG) that can cause ventricular arrhythmias
and lead to sudden cardiac death. LQTS was first described in 1957 and since then its genetic
etiology has been researched in many studies, but it is still not fully understood. Depending on the
type of monogenic mutation, LQTS is currently divided into 17 subtypes, with LQT1, LQT2, and
LQT3 being the most common forms. Based on the results of a prospective study, it is suggested that
the real prevalence of congenital LQTS is around 1:2000. Clinical manifestations of congenital LQTS
include LQTS-attributable syncope, aborted cardiac arrest, and sudden cardiac death. Many patients
with congenital LQTS will remain asymptomatic for life. The initial diagnostic evaluation of congenital
LQTS includes obtaining detailed personal and multi-generation family history, physical examination,
series of 12-lead ECG recordings, and calculation of the LQTS diagnostic score, called
Schwartz score. Patients are also advised to undertake 24-hour ambulatory monitoring, treadmill/cycle
stress testing, and LQTS genetic testing for definitive confirmation of the diagnosis. Currently
available treatment options include lifestyle modifications, medication therapy with emphasis on betablockers,
device therapy and surgical therapy, with beta-blockers being the first-line treatment option,
both in symptomatic and asymptomatic patients.

Keywords

Congenital long QT syndrome; Monogenic mutation; Syncope; Ventricular arrhythmia; Sudden cardiac death

Hrčak ID:

275521

URI

https://hrcak.srce.hr/275521

Publication date:

1.12.2021.

Article data in other languages: croatian

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