A5085176529- Cardiovascular Effects of Exercise
- Cardiomyopathy and Myosin Studies
- Sports injuries and prevention
- Cardiac electrophysiology and arrhythmias
- Viral Infections and Immunology Research
- Cardiac Arrhythmias and Treatments
- Cardiac Structural Anomalies and Repair
- Genetics and Physical Performance
- Congenital Heart Disease Studies
- Ion channel regulation and function
- Tissue Engineering and Regenerative Medicine
- Cardiac pacing and defibrillation studies
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Cardiac Arrest and Resuscitation
- RNA Research and Splicing
- Pulmonary Hypertension Research and Treatments
- ECG Monitoring and Analysis
- Pluripotent Stem Cells Research
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Gun Ownership and Violence Research
- Receptor Mechanisms and Signaling
- Nuclear Structure and Function
- Inflammasome and immune disorders
University of Padua
2015-2025
University of Groningen
2017
University Medical Center Groningen
2017
University of Amsterdam
2017
Casa di Cura Villa Garda
2017
Ghent University
2014
VIB-UGent Center for Inflammation Research
2014
Centre for Human Genetics
2012
Fundación Juan March
2012
Baylor College of Medicine
2006
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC due desmosomal defects. Therefore, desmoglein-2 (DSG2), only desmoglein isoform expressed cardiac myocytes, was screened subjects ARVC.In a series 80 unrelated probands, 26 carried mutation DSP (16%),...
The original designation of "Arrhythmogenic right ventricular (dysplasia/) cardiomyopathy"(ARVC) was used by the scientists who first discovered disease, in pre-genetic and pre-cardiac magnetic resonance era, to describe a new heart muscle disease predominantly affecting ventricle, whose cardinal clinical manifestation occurrence malignant arrhythmias. Subsequently, autopsy investigations, genotype-phenotype correlations studies increasing use contrast-enhancement cardiac showed that...
Background— Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed value genotype prediction lifetime major arrhythmic events and sudden cardiac death (SCD) gene–related ARVC. Methods Results— The overall study population included 134 gene mutation carriers (68 men; median age 36 years [22–52]) from 44 consecutive ARVC families undergoing comprehensive genetic screening. probability experiencing a...
Arrhythmogenic right ventricular cardiomyopathy/dys-plasia (ARVD) is a dominantly inherited disorder progressively affecting the myocardium and it one of major causes juvenile sudden death. The chromosomal localization disease gene reported here for first time. A maximum lod score 6.04 was obtained at θ = 0 linkage with polymorphic marker D14S42 (14q23–q24) in two families, which has 82 subjects (19 affected) four generations. pre-symptomatic identification ARVD carriers by analysis affected...
Aims To characterize the clinical profile of patients belonging to families affected with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) due mutations gene encoding for cell-to-cell adhesion protein desmoplakin (DSP).
Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes juvenile sudden death. We have previously assigned disease locus to chromosome 14q23–q24. Here we report on a novel variant ARVD, which transmitted associated 1q42–q43 and characterized by concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 ARVD2 map in proximity a-actinin genes, possible implication these myofibrillar proteins pathogenesis ARVD...
AimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is a major cause of juvenile sudden death and characterized by fibro-fatty replacement the ventricle.Mutations in several genes encoding desmosomal proteins have been identified ARVC.We speculated that aT-catenin, encoded CTNNA3, might also carry mutations ARVC patients.Alpha-T-catenin binds plakophilins this binding contributes to formation area composita, which strengthens cell-cell adhesion contractile cardiomyocytes. Methods...
Abstract Aims The aim of this study is to evaluate the clinical features patients affected by arrhythmogenic cardiomyopathy (AC), presenting with chest pain and myocardial enzyme release in setting normal coronary arteries (‘hot phase’). Methods results We collected detailed anamnestic, clinical, instrumental, genetic, histopathological findings as well follow-up data a series AC who experienced hot phase. A total 23 subjects (12 males, mean age at first episode 27 ± 16 years) were...
BackgroundDesmoplakin (DSP) genetic variants have been reported in arrhythmogenic cardiomyopathy with particular regard to predominant left ventricular (LV) involvement.ObjectiveThe purpose of this study was improve our understanding clinical phenotype and outcome DSP variant carriers.MethodsThe picture 73 patients (36% probands) harboring a pathogenic/likely pathogenic were evaluated.ResultsThe during follow-up (mean 11 years; range 1–39 years) changed 25 (35%), LV (ALVC) forms being the...
Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 54 ARVC probands for mutations desmocollin-2 (DSC2), the only desmocollin isoform expressed cardiac tissue.Mutation screening was performed denaturing high-performance liquid chromatography and direct sequencing. To evaluate pathogenic...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease carrying a risk of sudden death. Information about the clinical features during childhood and age at onset scanty.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibrofatty replacement of the myocardium and arrhythmias, associated with mutations in desmosomal genes. Only a missense mutation DES gene coding for desmin, intermediate filament protein expressed cardiac skeletal cells, has been recently ARVC. We screened 91 ARVC index cases (53 negative genes additional 38 carrying mutations) mutations. Two rare variants were identified. The...
Whether a desmosomal (DS)-gene defect may in itself induce life-threatening ventricular arrhythmias regardless of phenotypic expression arrhythmogenic right cardiomyopathy (ARVC) is still debated. This prospective study evaluated the long-term outcome DS-gene mutation carriers relation to ARVC expression.The population included 116 [49% males; median age 33 years (16-48 years)] without prior sustained tachycardia (VT) or fibrillation (VF). The incidence arrhythmic endpoint, including sudden...