A5057381638- Cardiovascular Effects of Exercise
- Sports injuries and prevention
- Cardiomyopathy and Myosin Studies
- Cardiac electrophysiology and arrhythmias
- Cardiac Arrhythmias and Treatments
- Viral Infections and Immunology Research
- Cardiac pacing and defibrillation studies
- Cardiac Structural Anomalies and Repair
- Cardiac Valve Diseases and Treatments
- Cardiac Arrest and Resuscitation
- Genetics and Physical Performance
- Congenital Heart Disease Studies
- Gun Ownership and Violence Research
- Cardiac Imaging and Diagnostics
- Ion channel regulation and function
- Cardiovascular Issues in Pregnancy
- Transplantation: Methods and Outcomes
- Infective Endocarditis Diagnosis and Management
- Pulmonary Hypertension Research and Treatments
- Cardiovascular Function and Risk Factors
- Pericarditis and Cardiac Tamponade
- Organ Transplantation Techniques and Outcomes
- RNA and protein synthesis mechanisms
- Renal Transplantation Outcomes and Treatments
- Cardiovascular Syncope and Autonomic Disorders
University of Padua
2016-2025
ERN GUARD-Heart
2022-2025
Azienda Ospedaliera di Padova
2014-2019
University of Groningen
2017
University Medical Center Groningen
2017
Casa di Cura Villa Garda
2017
University of Amsterdam
2017
Hospital Universitario Quirónsalud Madrid
2016
Istituto Ramazzini
2016
New York University
2016
Background— In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and interpretation frequently nonspecific features ARVC/D. This enabled confirmatory in index cases through exclusion phenocopies provided a standard on which research genetic studies could be based. Structural, histological, electrocardiographic, arrhythmic, familial disease were incorporated into...
In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and interpretation frequently nonspecific features ARVC/D. This enabled confirmatory in index cases through exclusion phenocopies provided a standard on which research genetic studies could be based. Structural, histological, electrocardiographic, arrhythmic, familial disease were incorporated into criteria,...
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%),...
Background— Mitral valve prolapse (MVP) may present with ventricular arrhythmias and sudden cardiac death (SCD) even in the absence of hemodynamic impairment. The structural basis electric instability remains elusive. Methods Results— pathology registry 650 young adults (≤40 years age) SCD was reviewed, cases MVP as only cause were re-examined. Forty-three patients (26 females; age range, 19–40 years; median, 32 years) identified (7% all SCD, 13% women). Among 12 available ECG, 10 (83%) had...
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...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous disorder characterized by fibro-fatty replacement of the myocardium, associated with high risk sudden death. The objective this study to identify gene involved in ARVD1, which has been elusive ever since its locus was mapped chromosome 14q24.3.Mutation screening promoter and untranslated regions (UTRs) transforming growth factor-beta3 (TGFbeta3) performed direct sequencing genomic DNA one index case...
Background— Arrhythmic mitral valve prolapse (MVP) is characterized by myxomatous leaflets and left ventricular (LV) fibrosis of papillary muscles inferobasal wall. We searched for morphofunctional abnormalities the that could explain a regional mechanical myocardial stretch. Methods Results— Thirty-six (27 female patients; median age: 44 years) arrhythmic MVP patients with LV late gadolinium enhancement on cardiac magnetic resonance no or trivial regurgitation, 16 (6 40 without were...
Background— The clinical profile and arrhythmic outcome of competitive athletes with isolated nonischemic left ventricular (LV) scar as evidenced by contrast-enhanced cardiac magnetic resonance remain to be elucidated. Methods Results— We compared 35 (80% men, age: 14–48 years) arrhythmias LV subepicardial/midmyocardial late gadolinium enhancement (LGE) on (group A) 38 no LGE B) 40 healthy control C). A stria pattern distribution, mostly involving the lateral wall, was found in 27 (77%)...
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...
Abstract Aims To study the impact of genotype on performance 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The cohort comprised 554 patients with a definite diagnosis ARVC no history sustained arrhythmia (VA). During median follow-up 6.0 (3.1,12.5) years, 100 (18%) experienced primary VA outcome (sustained tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or death) corresponding to an...
Arrhythmogenic cardiomyopathy (ACM) is a heart muscle disease characterized by prominent "non-ischemic" myocardial scarring predisposing to ventricular electrical instability. Diagnostic criteria for the original phenotype, arrhythmogenic right (ARVC), were first proposed in 1994 and revised 2010 an international Task Force (TF). A 2019 International Expert report appraised these previous criteria, finding good accuracy diagnosis of ARVC but lack sensitivity identification expanding...
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).
Three-dimensional electroanatomic voltage mapping offers the potential to identify low-voltage areas that correspond regions of right ventricular (RV) myocardial loss and fibrofatty replacement in patients with arrhythmogenic RV cardiomyopathy/dysplasia (ARVC/D).Thirty-one consecutive (22 men 9 women; mean age, 30.8+/-7 years) who fulfilled criteria Task Force European Society Cardiology International Federation (ESC/ISFC) for ARVC/D diagnosis after noninvasive clinical evaluation underwent...
Mutations in the cardiac desmosomal protein desmoglein-2 (DSG2) are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). We studied explanted heart of a proband carrying DSG2-N266S mutation as well transgenic mice (Tg-NS) overexpression mouse equivalent this mutation, N271S-dsg2, aim investigating pathophysiological mechanisms involved. Transgenic recapitulated clinical features ARVC, including sudden death at young age, spontaneous arrhythmias, dysfunction, and...
To provide a standardized endomyocardial biopsy (EMB) protocol and diagnostic quantitative parameters for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). The Task Force criteria the in vivo diagnosis of ARVC/D include tissue characterization by EMB as major criterion. EMBs were simulated vitro with Cordis bioptome explanted hearts from six groups: diffuse (n = 10) segmental ARVC/D, dilated cardiomyopathy (DC) 10), controls adipositas cordis elderly >80 years 10). Sampling...
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...