Publications by authors named "Roos F J Marsman"
Article Synopsis
- Chronic kidney disease (CKD) is unexplained in 20% of patients, and this study investigates the use of massively parallel sequencing (MPS) as a diagnostic tool for these cases.
- The study found that in 340 participants, a genetic diagnosis was identified in 17% of cases, leading to clinical consequences in 73% of those diagnosed.
- Barriers to implementation of genetic testing included genetic illiteracy among nephrologists, difficulties in test selection, and lack of time, highlighting the need for better education in genetics.
Objectives: The aim of this study was to investigate the modulatory effect of the coxsackie and adenovirus receptor (CAR) on ventricular conduction and arrhythmia vulnerability in the setting of myocardial ischemia.
Background: A heritable component in the risk of ventricular fibrillation during myocardial infarction has been well established. A recent genome-wide association study of ventricular fibrillation during acute myocardial infarction led to the identification of a locus on chromosome 21q21 (rs2824292) in the vicinity of the CXADR gene.
Objectives: The aim of this study was to describe a new familial cardiac phenotype and to elucidate the electrophysiological mechanism responsible for the disease.
Background: Mutations in several genes encoding ion channels, especially SCN5A, have emerged as the basis for a variety of inherited cardiac arrhythmias.
Methods: Three unrelated families comprising 21 individuals affected by multifocal ectopic Purkinje-related premature contractions (MEPPC) characterized by narrow junctional and rare sinus beats competing with numerous premature ventricular contractions with right and/or left bundle branch block patterns were identified.