A5008670843- Cardiac electrophysiology and arrhythmias
- Cardiovascular Effects of Exercise
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Sports injuries and prevention
- Cardiac Arrhythmias and Treatments
- Neuroscience and Neuropharmacology Research
- Receptor Mechanisms and Signaling
- Genetics and Physical Performance
- Cardiac pacing and defibrillation studies
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Viral Infections and Immunology Research
- BRCA gene mutations in cancer
- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Mitochondrial Function and Pathology
- Gun Ownership and Violence Research
- Congenital heart defects research
- Cardiac Arrest and Resuscitation
- Genetic Neurodegenerative Diseases
- Ion Transport and Channel Regulation
- Connective tissue disorders research
- Cardiac Structural Anomalies and Repair
Assistance Publique – Hôpitaux de Paris
2016-2025
Inserm
2009-2025
Sorbonne Université
2016-2025
Hôpital Charles-Foix
2015-2025
Unité de recherche sur les maladies cardiovasculaires et métaboliques
2015-2024
Pitié-Salpêtrière Hospital
2014-2024
RELX Group (United States)
2024
RELX Group (United Kingdom)
2024
Fondation pour l’innovation en Cadiométabolisme et Nutrition
2009-2021
Centre de Génétique Moléculaire
2020
Acquired long QT syndrome (aLQTS) exhibits prolongation and Torsades de Pointes ventricular tachycardia triggered by drugs, hypokalaemia, or bradycardia. Sometimes, QTc remains prolonged despite elimination of triggers, suggesting the presence an underlying genetic substrate. In aLQTS subjects, we assessed prevalence mutations in major LQTS genes their probability being carriers a disease-causing variant based on clinical factors.We screened for five among 188 probands (55 ± 20 years, 140...
AimsFive desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) but the clinical impact of genetics remains poorly understood. We wanted to address potential genotyping.
Brugada syndrome (BrS) is characterized by ventricular tachyarrhythmias leading to sudden cardiac death and caused, in part, mutations the SCN5A gene encoding sodium channel Na(v)1.5. Fever can trigger or exacerbate clinical manifestations of BrS. The aim this work was characterize genetic molecular determinants fever-dependent BrS.Four male patients with typical BrS ST-segment elevation V1-V3 arrhythmias during fever were screened for gene. Wild-type (WT) mutant Na(v)1.5 channels expressed...
Background— Brugada syndrome (BrS) is caused mainly by mutations in the SCN5A gene, which encodes α-subunit of cardiac sodium channel Na v 1.5. However, ≈20% probands have mutations, suggesting implication other genes. MOG1 recently was described as a new partner 1.5, playing potential role regulation its expression and trafficking. We investigated whether could cause BrS. Methods Results— screened direct sequencing patients with BrS idiopathic ventricular fibrillation. A missense mutation...
BACKGROUND: Genetic variants in desmosomal cadherins, desmoglein 2 ( DSG2 ) and desmocollin DSC2 ), cause a distinct form of arrhythmogenic right ventricular cardiomyopathy (ARVC), which remains poorly reported. In this study, we aimed to provide comprehensive description the phenotypic expression, natural history, clinical outcomes patients with ARVC subset. METHODS: data variant carriers were collected from 5 countries Europe Asia. We assessed profile these their outcomes, focusing on...
Andersen-Tawil syndrome (ATS) is an uncommon form of channelopathy linked to mutations in the KCNJ2 gene. Currently, little known about long-term arrhythmic prognosis this disease.We conducted a retrospective multicentre study nine French hospitals. Patients were recruited only if they mutation carriers. Thirty-six patients (female n = 22, 61%) from 20 unrelated kindred included with mean follow-up 9.5 ± 8.2 years. We found 12 distinct probands. Three them novel. Thirteen (36%) experienced...
Congenital long-QT syndrome is a disorder resulting in ventricular arrhythmias and sudden death. The most common forms of the syndrome, types 1 2, are caused by mutations potassium-channel genes KCNQ1 KCNH2, respectively. Although inheritance autosomal dominant, female predominance has often been observed attributed to an increased susceptibility cardiac women. We investigated possibility unbalanced transmission deleterious trait.
Objectives. To determine the hemolysis interference on biochemical tests and immunoassays performed Roche Diagnostics analyzers, according to different maximum allowable limits. Design methods. Heparinized plasma serum pools, free of interferences, were overloaded by increasing amounts a hemoglobin-titrated hemolysate. This was evaluated for 45 analytes using Modular® Cobas® analyzers. For each parameter, index (HI) corresponding traditional ± 10% change concentrations from baseline (± 10%Δ)...
To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease to improve their risk stratification. A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals 13 countries between 1990 2015. All patients ≤16 years age diagnosed a genetically confirmed SCN5A mutation were included analysis. There no restriction made based on diagnosis. total 442 {55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5]...
Abstract The presence of multiple pathogenic variants in desmosomal genes ( DSC2 , DSG2 DSP JUP and PKP2 ) patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity is reclassified frequently, which may result changed clinical risk prediction. Here, we present collection, reclassification, outcome correlation for largest series ARVC carrying date n = 331). After only 29% remained carriers two (likely) variants. They...
Arrhythmogenic cardiomyopathy (ACM) related to Desmoplakin (DSP) mutations is a distinct condition associated with particularly severe outcomes, more frequent left ventricular (LV) involvement including fibrosis, dysfunction and inflammatory episodes. Whether DSP-ACM specific imaging features remains elusive. To provide comprehensive description of cardiac magnetic resonance (CMR) findings in patients compare them RV-dominant ACM LV (LV+ right-dominant-ACM). Patients matched toa non-DSP...
Abstract Background We present a case series detailing family with familial cardiac laminopathy, including the female index patient, her father, brother, and daughter, all diagnosed atrial arrhythmias, i.e. fibrillation (AF), flutter, premature contractions. Case summary The patient is known for frequent contractions since age of 35 years persistent AF 46 years. Rhythm control symptomatic was achieved after two ablations. brother asymptomatic 26 He has opted rate oral anticoagulation. Their...