Title Genetic disease modifying future career: a case report of long QT syndrome /
Authors Jančauskaitė, Dovilė ; Šmigelskaitė, Akvilė ; Mikštienė, Violeta ; Barysienė, Jūratė ; Tunold, Agnė ; Marinskis, Germanas ; Aidietis, Audrius
DOI 10.4172/2165-7920.10001081
Full Text Download
Is Part of Journal of clinical case reports.. Hyderabad : OMICS International. 2018, vol. 8, iss. 2, art. no. 1081, p. [1-4].. ISSN 2165-7920
Keywords [eng] Long QT syndrome ; Torsades de pointes ; Sudden cardiac death
Abstract [eng] Long QT syndrome (LQTS) is a rare congenital and inherited or acquired heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsades de pointes. These episodes may lead to fainting and sudden death due to ventricular fibrillation. Long QT syndrome is a channelopathy, characterized by the disorder of ion channels, which results in a prolongation of QT interval and ventricular arrhythmias. Clinical manifestation of long QT syndrome varies from asymptomatic to life threatening arrhythmias. The first sign of the disease may be sudden cardiac death. Episodes may be provoked by various stimuli, depending on the subtype of the condition. Therefore, once the syndrome is diagnosed, prevention of adverse events should be started that could often change the lifestyle and sometimes future career. We present a case of an asymptomatic 15-year-old athlete girl, in whom long QT syndrome type 1 was diagnosed leading to termination of her professional sport career. Prolongation of QT interval was identified during routine health screening. The intermediate probability of long QT syndrome was calculated according to Schwartz and Crotti criteria, therefore genetic testing was performed showing pathogenic mutation of KCNQ1 gene. After the genetic confirmation of the disease, patient’s medical examination was reviewed showing QTc interval prolongation on recovery phase during exercise stress test. A scrutiny examination of athlete’s electrocardiograms is needed. Automatic calculation of QTc interval can be imprecise and manual recalculation is necessary. Accurate evaluation of LQTS ECG criteria helps to determine the probability of genetic syndrome, indications for genetic testing, lifestyle and treatment recommendations.
Published Hyderabad : OMICS International
Type Journal article
Language English
Publication date 2018