Richard Isnard
- Cardiovascular Function and Risk Factors
- Heart Failure Treatment and Management
- Cardiomyopathy and Myosin Studies
- Cardiac pacing and defibrillation studies
- Cardiovascular Effects of Exercise
- Cardiac Imaging and Diagnostics
- Cardiac Structural Anomalies and Repair
- Atrial Fibrillation Management and Outcomes
- Healthcare Systems and Practices
- Cardiac Valve Diseases and Treatments
- Cardiac Arrhythmias and Treatments
- Mitochondrial Function and Pathology
- Congenital heart defects research
- Viral Infections and Immunology Research
- Genetic Neurodegenerative Diseases
- Hemoglobinopathies and Related Disorders
- Cardiac tumors and thrombi
- Cardiovascular and exercise physiology
- Cardiac electrophysiology and arrhythmias
- Cardiovascular Issues in Pregnancy
- Blood Pressure and Hypertension Studies
- Iron Metabolism and Disorders
- Hemodynamic Monitoring and Therapy
- Ultrasound in Clinical Applications
- Heart Rate Variability and Autonomic Control
Sorbonne Université
2015-2024
Unité de recherche sur les maladies cardiovasculaires et métaboliques
2014-2024
Inserm
2014-2024
Assistance Publique – Hôpitaux de Paris
2015-2024
Fondation pour l’innovation en Cadiométabolisme et Nutrition
2014-2024
Pitié-Salpêtrière Hospital
2015-2024
Nutrition et obésité : approches systémiques
2023
Hôpital Charles-Foix
2023
Institut du Cerveau
2020
Allen Institute for Brain Science
2020
Hypertrophic cardiomyopathy is an autosomal-dominant disorder in which 10 genes and numerous mutations have been reported. The aim of the present study was to perform a systematic screening these large population, evaluate distribution disease genes, determine best molecular strategy clinical practice.The entire coding sequences 9 (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed 197 unrelated index cases with familial or sporadic hypertrophic cardiomyopathy....
Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution all clinically relevant disease DCM phenotypes in larger cohorts. We utilized next-generation sequencing overcome these and screened a large cohort. In this multi-centre, multi-national study, we enrolled 639 patients with sporadic or familial DCM. To samples, applied standardized protocol for ultra-high coverage 84 genes, leading 99.1%...
Our objectives were to determine the causes of acute respiratory failure (ARF) in elderly patients and assess accuracy initial diagnosis by emergency physician, that prognosis.In this prospective observational study, included if they admitted our department, aged 65 years or more with dyspnea, fulfilled at least one following criteria ARF: rate 25 minute-1; arterial partial pressure oxygen (PaO2) 70 mmHg less, peripheral saturation 92% less breathing room air; CO2 (PaCO2) > = 45 mmHg, pH <...
Dilated cardiomyopathy (DCM) is a major cause of heart failure with high familial recurrence risk. So far, the genetics DCM remains largely unresolved. We conducted first genome-wide association study (GWAS) to identify loci contributing sporadic DCM. One thousand one hundred and seventy-nine patients 1108 controls contributed discovery phase. Pools DNA stratified on disease status, population, age, gender were constituted used for testing 517 382 single nucleotide polymorphisms (SNPs)....
Microbiota-host-diet interactions contribute to the development of metabolic diseases. Imidazole propionate is a novel microbially produced metabolite from histidine, which impairs glucose metabolism. Here, we show that subjects with prediabetes and diabetes in MetaCardis cohort three European countries have elevated serum imidazole levels. Furthermore, levels were increased low bacterial gene richness Bacteroides 2 enterotype, previously been associated obesity. The enterotype was also...
Abstract Previous microbiome and metabolome analyses exploring non-communicable diseases have paid scant attention to major confounders of study outcomes, such as common, pre-morbid co-morbid conditions, or polypharmacy. Here, in the context ischemic heart disease (IHD), we used a design that recapitulates initiation, escalation response treatment over time, mirroring longitudinal would otherwise be difficult perform given protracted nature IHD pathogenesis. We recruited 1,241 middle-aged...
Laminopathies are a group of disorders caused by mutations in the LMNA gene encoding A-type lamins, components nuclear lamina. Three these affect specifically skeletal and/or cardiac muscles, and their pathogenic mechanisms still unknown. We chose H222P missense mutation identified family with autosomal dominant Emery–Dreifuss muscular dystrophy, one striated muscle-specific laminopathies, to create faithful mouse model this type laminopathy. The mutant mice exhibit overtly normal embryonic...
Background —Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C ( MYBPC3 ) gene. The aim of this study was perform type analysis. Methods and Results —We studied 76 genetically affected subjects from nine families with seven recently identified mutations (SASint20, SDSint7, SDSint23, branch point int23, Glu542Gln, a deletion exon 25, duplication/deletion 33) Detailed clinical, ECG,...
Endothelin-1 is a potent vasoconstrictive and multifunctional peptide. Elevated concentrations have been reported in congestive heart failure. We hypothesized that the level of endothelin-1 plasma prognostic marker Plasma levels were measured by radioimmunoassay 120 failure patients with ischaemic or non-ischaemic cardiomyopathy (mean ejection fraction 28±11%, New York Heart Association (NYHA) functional class I: 21, II: 35, III: 61, IV: 3). During median follow-up 361±338 days, 14 cardiac...
Background Moderate anticoagulation may be proposed to reduce the risk of hemorrhage for certain patients with a mechanical prosthesis, but consequences thromboembolism are debated. Methods and Results The purpose AREVA trial was compare moderate oral (international normalized ratio [INR] 2.0 3.0) usual regimen (INR 3.0 4.5) after single-valve replacement either Omnicarbon or St Jude. Patients included were between 18 75 years old, in sinus rhythm, left atrial diameter ≤50 mm on time-motion...
Dilated cardiomyopathy (DCM) is one of the leading causes for cardiac transplantations and accounts up to one-third all heart failure cases. Since extrinsic monogenic explain only a fraction cases, common genetic variants are suspected contribute pathogenesis DCM, its age onset, clinical progression. By large-scale case-control genome-wide association study we aimed here identify novel risk loci DCM.Applying three-staged design, analysed more than 4100 DCM cases 7600 controls. We identified...
Dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. Monogenic forms of DCM are observed in families mutations located mostly genes encoding and sarcomeric proteins. However, evidence suggests that factors also affect the susceptibility to idiopathic DCM. To identify risk alleles for non-familial DCM, we carried out case-control association study, genotyping 664 cases 1,874 population-based healthy controls from Germany using 50K human cardiovascular...
Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM caused mutations in sarcomeric genes, but >40% of patients, the mutation not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy. evaluated 121 devoid a known genes. identified three novel...
Aims Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed exome-wide array-based association study (EWAS) to assess the contribution missense variants sporadic DCM. Methods and results 116,855 single nucleotide (SNVs) were analyzed in 2796 DCM patients 6877 control subjects from 6 populations European ancestry. confirmed two previously identified associations SNVs BAG3 ZBTB17 discovered six novel DCM-associated loci...