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View article: Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for arrhythmogenic right ventricular cardiomyopathy: initial suspicion based on the 12-lead electrocardiogram
Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for arrhythmogenic right ventricular cardiomyopathy: initial suspicion based on the 12-lead electrocardiogram Open
Aims The task force criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy (ARVC) are highly sensitive but lack specificity. Atypical RV involvement (aRVi) may indicate different underlying aetiologies and prognosis, requiring …
View article: Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Titin-related familial dilated cardiomyopathy: factors associated with disease onset Open
Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated w…
View article: Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant Open
Additional (L)P variants in established cardiomyopathy- or channelopathy-related genes were found in 6 % of PLN p.(Arg14del) index patients, which is higher than in control populations. These patients showed a trend towards earlier onset o…
View article: Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic
Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic Open
Introduction Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification drives screening re…
View article: Adaptation of ACMG/AMP Guidelines for Clinical Classification of <i>BMPR2</i> Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar
Adaptation of ACMG/AMP Guidelines for Clinical Classification of <i>BMPR2</i> Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar Open
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone Morphogenetic Protein Receptor Type 2 ( BMPR2 ) gene. We formed a ClinGen variant curation expert panel to devis…
View article: Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating <i>MYBPC3</i> Founder Variant Carriers
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating <i>MYBPC3</i> Founder Variant Carriers Open
BACKGROUND: MYBPC3 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. …
View article: Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar
Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar Open
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( BMPR2 ) gene. We formed a ClinGen variant curation expert panel…
View article: Clinical Features and Outcomes of Pediatric <i>MYH7</i> ‐Related Dilated Cardiomyopathy
Clinical Features and Outcomes of Pediatric <i>MYH7</i> ‐Related Dilated Cardiomyopathy Open
Background Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant loc…
View article: Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension
Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension Open
Rationale Approximately 80% of patients with non-familial pulmonary arterial hypertension (PAH) lack identifiable pathogenic genetic variants. While most genetic studies of PAH have focused on predicted loss-of-function variants, recent ap…
View article: A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers Open
Background and Aims Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. Patients harbouring these variants are at high risk for sus…
View article: Recreational and occupational physical activity and risk of adverse events in truncating<i>MYBPC3</i>founder variant carriers
Recreational and occupational physical activity and risk of adverse events in truncating<i>MYBPC3</i>founder variant carriers Open
Background MYBPC3 founder variants cause hypertrophic cardiomyopathy (HCM) leading to heart failure (HF) and malignant ventricular arrhythmias (MVA). Exercise is typically regarded a risk factor for disease expression, although evidence is…
View article: Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials
Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials Open
View article: The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview Open
Aims During the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF), next-generation sequencing panels can be considered to identify genotypes associated with arrhythmias. However, consensus for gene panel testing …
View article: Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human Open
Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiol…
View article: Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies Open
View article: The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant Open
View article: MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset Open
Introduction The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated phenotype and evaluate a potential fou…
View article: A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients Open
View article: Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension Open
View article: Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers Open
View article: Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy
Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy Open
Background Early diagnosis of hereditary ATTR polyneuropathy (ATTRv-PN) is important since treatment options have become available, which are most effective early in the disease course. ATTRv-PN is likely underdiagnosed as patients might b…
View article: Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants Open
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among …
View article: Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis Open
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also by cognitive and/or behavioral changes. Mendelian forms of ALS comprise approximately 10-15% of …
View article: Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population Open
Background: Pathogenic and likely pathogenic variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM) are recommended to be reported as secondary f…
View article: Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension
Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension Open
BACKGROUND Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. The disease is caused by both genetic and environmental factors, with genetic variants in at lea…
View article: Natural History of MYH7-Related Dilated Cardiomyopathy
Natural History of MYH7-Related Dilated Cardiomyopathy Open
View article: Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population
Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population Open
Background Pathogenic and likely pathogenic variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are recommended to be reported as secondary fin…
View article: Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy
Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy Open
View article: P62‐positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy
P62‐positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy Open
Genetic cardiomyopathy is caused by mutations in various genes. The accumulation of potentially proteotoxic mutant protein aggregates due to insufficient autophagy is a possible mechanism of disease development. The objective of this study…
View article: BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status Open