Publications by authors named "P van Tintelen"
Introduction: Current guidelines recommend suspecting transthyretin amyloid cardiomyopathy (ATTR-CM) in patients over 65 years of age with unexplained left ventricular (LV) hypertrophy in a non-dilated LV, heart failure (HF) and preserved ejection fraction (HFpEF), hypertrophic cardiomyopathy or severe aortic stenosis. However, there is evidence indicating a high prevalence of ATTR-CM in other HF phenotypes. As such, this study aimed to characterize the diversity of HF phenotypes of ATTR-CM by examining the LV ejection fraction and LV dilatation using echocardiography.
View Article and Find Full Text PDFBackground: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease.
Methods: Individuals with vEDS throughout the Netherlands were included.
Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings.
View Article and Find Full Text PDFArticle Synopsis
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart condition that mainly causes irregular heartbeats and is a leading cause of sudden cardiac death, particularly in athletes.
- There is no definitive treatment for ARVC yet, so the main prevention method currently is the use of implantable cardioverter defibrillators to manage risks.
- Recent advances in research have led to the creation of a risk calculator that estimates the likelihood of arrhythmias in ARVC patients over five years, and this article reviews how this tool can be effectively used in patient care.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
October 2023
Article Synopsis
- Scientists are now doing more genomic testing, which is checking our genes to see if we have or could get certain diseases.
- They created a new database called CardiacG2P that helps understand how certain genes can cause heart diseases and makes it easier to find important gene changes.
- By using this new database, they can better focus on the changes that really matter, making the process of testing for heart-related issues faster and more accurate.