Publications by authors named "Anneline S J M te Riele"
Introduction: A healthy young woman, age 26 without prior cardiac complications, experienced an out-of-hospital cardiac arrest caused by ventricular fibrillation (VF), which coincided with a fever. Comprehensive diagnostics including echo, CMR, exercise testing, and genetic sequencing, did not identify any potential cause. This led to the diagnosis of idiopathic VF and installment of an implantable cardioverter defibrillator, which six months later appropriately intervened another VF episode under conditions comparable to the first event.
View Article and Find Full Text PDFBackground: founder variants cause hypertrophic cardiomyopathy leading to heart failure and malignant ventricular arrhythmias. Exercise is typically regarded as a risk factor for disease expression although evidence is conflicting. Stratifying by type of exercise may discriminate low- from high-risk activities in these patients.
View Article and Find Full Text PDFPurpose Of Review: This review aims to explore the emerging potential of artificial intelligence (AI) in refining risk prediction, clinical diagnosis, and treatment stratification for cardiomyopathies, with a specific emphasis on arrhythmogenic cardiomyopathy (ACM).
Recent Findings: Recent developments highlight the capacity of AI to construct sophisticated models that accurately distinguish affected from non-affected cardiomyopathy patients. These AI-driven approaches not only offer precision in risk prediction and diagnostics but also enable early identification of individuals at high risk of developing cardiomyopathy, even before symptoms occur.
Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management.
J Cardiovasc Electrophysiol
December 2024
Arrhythmogenic cardiomyopathy (ACM) is a genetically heterogeneous inherited cardiomyopathy with an estimated prevalence of 1:5000-10 000 that predisposes patients to life-threatening ventricular arrhythmias (VA) and sudden cardiac death (SCD). ACM diagnostic criteria and risk prediction models, particularly for arrhythmogenic right ventricular cardiomyopathy (ARVC), the most common form of ACM, are typically genotype-agnostic, but numerous studies have established clinically meaningful genotype-phenotype associations. Early signs of ACM onset differ by genotype indicating the need for genotype-specific diagnostic criteria and family screening paradigms.
View Article and Find Full Text PDFArticle Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene lead to a unique type of cardiomyopathy that doesn't fit neatly into existing categories like DCM, NDLVC, or ARVC, with limited past studies on potential predictors of severe outcomes.
- Researchers analyzed 800 patients with DSP variants from a global network over an average of 3.7 years, finding that 17.4% experienced sustained ventricular arrhythmias (VAs) and 9.0% had heart failure (HF) hospitalizations.
- Key risk factors for developing VAs included female sex, history of non-sustained and sustained VAs, and lower left ventricular ejection fraction, while T-wave inversion was linked to HF
Article Synopsis
- Pathogenic/likely pathogenic (P/LP) desmin variants are linked to various cardiomyopathy and skeletal myopathy phenotypes, with a notable incidence of major adverse cardiac events (MACE) like cardiac conduction disease, arrhythmias, and heart failure.
- A systematic review of 71 studies involving 230 patients showed that over half of the patients were diagnosed with cardiomyopathy, primarily dilated cardiomyopathy, and many experienced significant cardiac events during their follow-ups.
- The research highlighted that familial penetrance of cardiac issues in relatives with P/LP variants was quite high at 63.6%, and male patients were more likely to develop severe outcomes linked to these variants.
Natural Course of Electrocardiographic Features in Arrhythmogenic Right Ventricular Cardiomyopathy and Their Relation to Ventricular Arrhythmic Events.
J Am Heart Assoc
August 2024
Article Synopsis
- Electrocardiographic abnormalities are common in patients with arrhythmogenic right ventricular cardiomyopathy and were analyzed over the long term in a study involving 353 patients and almost 7,000 ECGs.
- The study found that over time, there were notable changes in QRS voltage, R- and T-wave amplitudes, as well as increases in QRS duration, terminal activation duration, and QTc interval, indicating a progressive worsening of the condition.
- T-wave inversions observed before diagnosis were linked to a higher risk of future ventricular arrhythmias, suggesting these ECG abnormalities could serve as early indicators of the disease even if they don't meet the full diagnostic criteria.
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene are linked to a specific type of arrhythmogenic cardiomyopathy, which increases the risk of serious heart rhythm issues, but current evaluation methods are unreliable for these patients.
- A study was conducted with patients from the DSP-ERADOS registry to track the occurrence of sustained ventricular arrhythmia (VA) over time, using a detailed statistical analysis to create a new clinical prediction tool.
- The research identified five key clinical factors that can help predict the risk of developing sustained VA, resulting in a new DSP risk score that demonstrated strong prediction capabilities in both the initial and external testing groups.
Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials.
J Cardiovasc Magn Reson
January 2025
Background: While late gadolinium enhancement (LGE) is proposed as a diagnostic criterion for arrhythmogenic right ventricular cardiomyopathy (ARVC), the potential of LGE to distinguish ARVC from differentials remains unknown. We aimed to assess the diagnostic value of LGE for ARVC diagnosis.
Methods: We included 132 subjects (60% male, 47 ± 11 years) who had undergone cardiac magnetic resonance imaging with LGE assessment for ARVC or ARVC differentials.
Article Synopsis
- * The study finds that a history of nonsustained ventricular tachycardia is a strong predictor of future VA occurrences, although traditional risk factors such as age and male sex do not show a significant association with VA events.
- * The ARVC risk calculator, which is intended to evaluate the risk of VA, performs inadequately in this patient population, highlighting the need for a more tailored, gene-specific risk
Article Synopsis
- The study aimed to explore the prevalence of transthyretin amyloidosis variant cardiomyopathy (ATTRv-CM) among relatives at risk, assess the effectiveness of repeated evaluations, and analyze first-line diagnostic methods like ECG and echocardiogram.
- Among 159 relatives evaluated, 25% were diagnosed with ATTRv-CM, and half of those diagnosed exhibited heart failure symptoms, showcasing a high negative predictive value for screening based on specific criteria.
- The findings emphasize the need for ongoing monitoring, as 13% of patients with ATTRv-CM showed no initial cardiac signs, suggesting regular follow-up testing is crucial for early detection and management.
Background: Phospholamban (PLN) p.(Arg14del) variant carriers are at risk for development of malignant ventricular arrhythmia (MVA). Accurate risk stratification allows timely implantation of intracardiac defibrillators and is currently performed with a multimodality prediction model.
View Article and Find Full Text PDFBackground And Aims: Implantable cardioverter-defibrillators (ICDs) are critical for preventing sudden cardiac death (SCD) in arrhythmogenic right ventricular cardiomyopathy (ARVC). This study aims to identify cross-continental differences in utilization of primary prevention ICDs and survival free from sustained ventricular arrhythmia (VA) in ARVC.
Methods: This was a retrospective analysis of ARVC patients without prior VA enrolled in clinical registries from 11 countries throughout Europe and North America.
Article 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.
Background: The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.
View Article and Find Full Text PDFAims: A risk calculator for individualized prediction of first-time sustained ventricular arrhythmia (VA) in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients has recently been developed and validated (www.ARVCrisk.com).
View Article and Find Full Text PDFBackground: Clinical guidelines recommend regular screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) to monitor at-risk relatives, resulting in a significant burden on clinical resources. Prioritizing relatives on their probability of developing definite ARVC may provide more efficient patient care.
Objectives: The aim of this study was to determine the predictors and probability of ARVC development over time among at-risk relatives.
Dysfunction of either the right or left ventricle can lead to heart failure (HF) and subsequent morbidity and mortality. We performed a genome-wide association study (GWAS) of 16 cardiac magnetic resonance (CMR) imaging measurements of biventricular function and structure. Mendelian randomization (MR) was used to identify plasma proteins associating with CMR traits as well as with any of the following cardiac outcomes: HF, non-ischemic cardiomyopathy, dilated cardiomyopathy (DCM), atrial fibrillation, or coronary heart disease.
View Article and Find Full Text PDFArrhythmogenic cardiomyopathy (ACM) is a progressive inheritable disease which is characterized by a gradual fibro-(fatty) replacement of the myocardium. Visualization of diffuse and patchy fibrosis patterns is challenging using clinically applied cardiac imaging modalities (e.g.
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