CASE REPORT   

Medicina dello Sport 2022 June;75(2):298-306

DOI: 10.23736/S0025-7826.22.04035-2

Copyright © 2022 EDIZIONI MINERVA MEDICA

language: English, Italian

A clinical case of long QT syndrome: the importance of genetic molecular study for risk stratification

Elio ASSISI ¹ ✉, Elettra LIBENER ², Simone GROSSGASTEIGER ¹, Christine MUR ¹, Stefan RESNYAK ¹

¹ Department of Sports Medicine, South Tyrolean Health Care Service, Bolzano, Italy; ² School of Specialization in Sports Medicine, University of Verona, Verona, Italy

Long QT syndrome is a primary electrical heart pathology, frequently associated with severe ventricular arrhythmias and in particular with a form of ventricular tachycardia called Torsades de pointes. Long QT syndrome (LQTS) is a heterogeneous group of ventricular repolarization disorders, whose most interesting form, from a sport medical perspective, is LQT1 which is characterized by a history of syncope and sudden death caused by ventricular tachycardia and/or fibrillation.
We present the clinical case of a young 20-year-old runner with negative medical history for syncope and ventricular arrhythmias. We diagnosed LQTS during the first sports medical visit, through the electrocardiographic traces and used the genetic molecular analysis for a further confirmation.

KEY WORDS: Genetic testing; Ambulatory electrocardiography; Syncope