Publications by authors named "Esmee van Drie"
Aims: Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del)-positive individuals was developed to predict individual major ventricular arrhythmia (VA) risk to support decision-making for primary prevention implantable cardioverter defibrillator (ICD) implantation. This model predicts major VA risk from baseline data, but iterative evaluation of major VA risk may be warranted considering that the risk factors for major VA are progressive.
View Article and Find Full Text PDFArticle Synopsis
- Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) exhibit varying symptoms and risk levels depending on age, with calcium regulation being a key factor in these heart conditions.
- A specific genetic change, c.286T>G p.(Ser96Ala), linked to serious arrhythmias in DCM patients, was examined for its impact on different cardiomyopathy groups, including those with a known pathogenic variant.
- The study found no significant differences in allele frequency between the general population and those with cardiomyopathy, indicating the p.(Ser96Ala) polymorphism does not modify disease severity or risk, suggesting the need for further research into reliable genetic markers for these heart conditions
Background: A pathogenic variant in the gene encoding phospholamban (PLN), a protein that regulates calcium homeostasis of cardiomyocytes, causes PLN cardiomyopathy. It is characterized by a high arrhythmic burden and can progress to severe cardiomyopathy. Risk assessment guides implantable cardioverter-defibrillator therapy and benefits from personalization.
View Article and Find Full Text PDFPurpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.
Methods: The clinical and genetic information were collected through GeneMatcher collaboration.