Publicaties

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Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndrome Universiteit Antwerpen KU Leuven

Tomas Robyns, Rik Willems, Bert Vandenberk, Joris Ector, Christophe Garweg, Cuno Kuiperi, Jeroen Breckpot, Anniek Corveleyn, Stefan Janssens, Hein Heidbuchel, et al.
BACKGROUND: Long QT syndrome (LQTS) is characterized by reduced penetrance and variable QT prolongation over time, resulting in an estimate of 25% carriers of a pathogenic mutation with a normal corrected QT (QTc) interval on the resting electrocardiogram (ECG). OBJECTIVE: The purpose of this study was to test the hypothesis that an individualized corrected QT interval derived from 24-hour Holter data more accurately predicts carriage of a ...

Prognostic value of electrocardiographic time intervals and QT rate dependence in hypertrophic cardiomyopathy KU Leuven

Tomas Robyns, Dieter Nuyens, Hua Rong Lu, David J Gallacher, Bert Vandenberk, Christophe Garweg, Joris Ector, Efstathios Pagourelias, Johan Van Cleemput, Stefan Janssens, et al.
INTRODUCTION: Preventing sudden cardiac death (SCD) is one of the main goals in hypertrophic cardiomyopathy (HCM). Many variables have been proposed, however the European and American guidelines do not incorporate any ECG or Holter monitoring derived variables other than the presence of ventricular arrhythmia in their risk stratification models. In the present study we evaluated electrocardiographic parameters in risk stratification of HCM. ...

Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout KU Leuven

Tomas Robyns, C Kuiperi, Rik Willems, Anniek Corveleyn, Dieter Nuyens
We present a new mutation in KCNH2 (c.2038delG) resulting in a frameshift and premature truncation of the IKr channel protein in a large LQTS family with several sudden death cases. This mutation was initially missed by mutation scanning with DHPLC due to allelic dropout and only retrieved after repeat genetic testing with targeted capture and massive parallel sequencing. There was full penetrance of this mutation, only if an individualized QT ...

Verbeteren van de preventie van plotse dood bij erfelijke cardiale ritme aandoeningen door optimalisatie van niet-invasieve risico strataficatie en genotypering KU Leuven

Tomas Robyns
The relation between the genotype and phenotype of primary arrhythmia syndromes (PAS) and cardiomyopathies (CMP) is complex and ever expanding. In the first part of this thesis project, we evaluated the value of both novel and existing electrocardiographic parameters in the diagnosis and prognosis of these patients. We proposed a novel method for evaluation of the QT interval based on the patient's own QT rate dependence profile obtained from 24 ...