French national reference center for neuromuscular diseases North/East/Île-de-France
The reference center for neuromuscular diseases is part of the cardiology department of the Cochin hospital.
Its activity is dedicated to the care of neuromuscular cardiomyopathies, both for the screening and diagnosis of their cardiac complications and for their management with a high level of expertise, adapted to their complexity and specificities, by offering the most modern care tools.
Its activity is divided between the following sectors :
- Full hospitalization : the department is the destination for patients treated for all acute cardiological situations within the GNMHC and Eastern Paris reference centers, as well as for patients with muscular diseases treated in the Ile de France region in a broader way – within the cardiological intensive care unit or in a hospitalization sector outside the intensive care unit.
- Day hospitalizations : scheduled check-ups as part of the follow-up for various explorations (ECG, echography, MRI, rhythmology) and adaptation of treatments.
- Dedicated consultations for scheduled monitoring of the disease and implanted devices (pacemakers, defibrillators and circulatory assistance devices).
This reference center is affiliated to the Filnemus rare disease healthcare network and to the Euro-NMD (Newcastle) European reference network.
Keywords : muscular dystrophies, congenital myopathies, myotonic disorders, periodic paralysis, malignant hyperthermia, glycogenoses, lipid and mitochondrial myopathies, inflammatory myopathies, metabolic myopathies, toxic myopathies, mitochondrial diseases with muscular expression.
Medical team
Pr Karim Wahbi
In case of emergency
The missions are the screening, prevention and management of cardiomyopathies of neuromuscular origin directly for patients from Île de France and their coordination at the national level and beyond.
In concrete terms, patients from other neuromuscular reference centers are taken care of in Cochin
- for screening for cardiac abnormalities
- for heavy complementary assessments that can only be performed in a cardiological center (electrophysiological explorations for example)
- to initiate drug treatments when cardiological monitoring is necessary (initiation of heart failure treatments for example)
- for important cardiac therapies (pacemakers, circulatory assistance)
From an anatomo-clinical point of view, these mainly concern :
- Muscle diseases
- Hereditary diseases : muscular distrophy, congenital myopathy, myotonic dystrophy, periodic paralysis, malignant hyperthermia, glycogen storage diseases, lipid storage and mitochondrial myopathies.
- Acquired diseases : inflammatory myopathy, metabolic myopathy, toxic myopathy.
- Muscle specific mitochondrial diseases
- Mitochondrial diseases affect about 2.5 in 10,000 people and are now considered the most common metabolic disease. These are complex diseases, linked to an energy deficit, which affect all organs. The clinical expression of these conditions is very heterogeneous (encephalomyopathy, mental retardation, epilepsy, diabetes, cardiomyopathy, deafness, blindness, liver failure, etc.). Patients are children or adults, and mitochondrial disease can develop at any age. The extreme diversity and complexity of these diseases make their diagnosis difficult, requiring expertise at different levels: clinical, pathological, biochemical and genetic. The patients must be taken care of successively by various specialists and their follow-up must be based on a trained multidisciplinary team, in close collaboration with the treating physicians.
- Pr Karim Wahbi – Cardiologist, head of the reference center
- Pr Denis Duboc – Cardiologist
- Dr Malika Saadi – Cardiologist
- Dr Arnaud Lazarus – Cardiologist
- Néjette Lallouche – Clinical research associate
- Samira Zerrouki – Clinical research associate
- Nathalie Simon – Secretary
RESEARCH
- Observatory for PAtients with Laminopathies and Emerinopathies (OPALE) – In progress
- Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy (NEBIDYS) – In progress
- Prospective Becker-Heart-Study (Becker-HS) – In progress
- Venous Thromboembolism in DM1 (DM1-VTE) – In progress
- International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit ardiomyovasculopathy (TGCV) and Related Diseases – In progress
- Venous Thromboembolism in Myotonic Dystrophy Type 1 (DM1-VTE) – In progress
Cohorts
- Duchenne Muscular Dystrophy Heart Study (DMD-HS) – 700 included patients
- DM1 Heart Registry – DM1 Respiratory Registry (DM1-Heart-R) – 1500 included patients
EDUCATION
- Hereditary heart disease IUD
Lyon, Paris VI universities - IUD for the management of neuromuscular diseases
Versailles Saint Quentin en Yvelines university - Myology IUD
Paris VI university
2022
– Appropriate timing of electrophysiological study in myotonic dystrophy type 1: unsolved question.
Vincenzo Russo, Karim Wahbi
Europace, 2022 Jul 15, PMID: 34931223 DOI: 10.1093/europace/euab311
2021
– Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Stalens C, Motté L, Béhin A, Ben Yaou R, Leturcq F, Bassez G, Laforêt P, Fontaine B, Ederhy S, Masingue M, Saadi M, Louis SL, Berber N, Stojkovic T, Duboc D, Wahbi K.
J Neuromuscul Dis, 2021 Mar 29, PMID: 33814458 DOI: 10.3233/JND-200620
– Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K.
Eur Heart J, 2021 Mar 22, PMID: 33748842 DOI: 10.1093/eurheartj/ehab054
– Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network, Servais L, Leturcq F, Amthor H.
Ann Neurol, 2021 Feb, PMID: 33159473 PMCID: PMC7894170 DOI: 10.1002/ana.25951
– Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Édouard Berling, Pascal Laforêt, Karim Wahbi, Philippe Labrune, François Petit, Giuseppe Ronzitti, Alan O’Brien
J Inherit Metab Dis, 2021 May, PMID: 33368379 DOI: 10.1002/jimd.12355
– Cardiovascular complications of lipodystrophic syndromes – focus on laminopathies.
Helena Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Marie-Christine Vantyghem, Bruno Donadille, Karim Wahbi, Corinne Vigouroux
Ann Endocrinol (Paris), 2021 Jun, PMID: 32201029 DOI: 10.1016/j.ando.2020.03.002
– Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
R Guimarães-Costa, G Fernández-Eulate, K Wahbi, F Leturcq, E Malfatti, A Behin, S Leonard-Louis, I Desguerre, C Barnerias, M C Nougues, A Isapof, B Estournet-Mathiaud, S Quijano-Roy 6, A Fayssoil, D Orlikowski, B Fauroux, I Richard, C Semplicini, N B Romero, G Querin, B Eymard, P Laforêt, T Stojkovic
Eur J Neurol, 2021 Feb, PMID: 33051934 DOI: 10.1111/ene.14592
– Sudden Cardiac Arrest in Young Women.
Orianne Weizman, Ardalan Sharifzadehgan, Wulfran Bougouin, Kumar Narayanan, Noémie Tence, Florence Dumas, Victor Waldmann, Lionel Lamhaut
Circulation, 2021 Feb 16, PMID: 33587656 DOI: 10.1161/CIRCULATIONAHA.120.052219
– Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Maria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, Juan Jiménez-Jáimez, Luisa Politano, Michael Arad, Vicente Climent-Paya, Ana Garcia-Alvarez, Rasmus B Hansen, José M Larrañaga-Moreira, Milos Kubanek, Luis R Lopes, Andrea Ros, Ruxandra Jurcut, Torsten B Rasmussen, Luis Ruiz-Guerrero et al.
Eur J Heart Fail, 2021 Aug, PMID: 34050592 DOI: 10.1002/ejhf.2250
– Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy.
Abdallah Fayssoil, Arnaud Lazarus, Karim Wahbi, Bernard Clair, Nicolas Mansencal, David Orlikowski
Neuromuscul Disord, 2021 Sep, PMID: 34391632 DOI: 10.1016/j.nmd.2021.06.008
– Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
R Guimarães-Costa, G Fernández-Eulate, K Wahbi, F Leturcq, E Malfatti, A Behin, S Leonard-Louis, I Desguerre, C Barnerias, M C Nougues, A Isapof, B Estournet-Mathiaud, S Quijano-Ro, A Fayssoil, D Orlikowski et al.
Eur J Neurol, 2021 Feb, PMID: 33051934 DOI: 10.1111/ene.14592
2020
– Cardiovascular manifestations of myotonic dystrophy
Karim Wahbi , Denis Furling
Trends Cardiovasc Med, 2020 May, PMID: 31213350 DOI: 10.1016/j.tcm.2019.06.001
– A high prevalence of arterial hypertension in patients with mitochondrial diseases
Caroline Chong-Nguyen, Caroline Stalens, Yves Goursot, Wulfran Bougouin, Tanya Stojkovic, Anthony Béhin, Fanny Mochel, Nawal Berber, Bruno Eymard, Denis Duboc, Pascal Laforêt, Karim Wahbi
J Inherit Metab Dis, 2020 May, PMID: 31762033 DOI: 10.1002/jimd.12195
– Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Constantinos Papadopoulos, Karim Wahbi, Anthony Behin, Wulfran Bougouin, Tanya Stojkovic, Sarah Leonard-Louis, Nawal Berber, Anne Lombès, Denis Duboc, Claude Jardel, Bruno Eymard, Pascal Laforêt
J Inherit Metab Dis, 2020 May, PMID: 31652339 DOI: 10.1002/jimd.12185
– Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
Elizabeth M McNally, Douglas L Mann, Yigal Pinto, Deepak Bhakta, Gordon Tomaselli, Saman Nazarian, William J Groh, Takuhisa Tamura, Denis Duboc, Hideki Itoh, Leah Hellerstein, Pradeep P A Mammen
J Am Heart Assoc, 2020 Feb 18, PMID: 32067592 PMCID: PMC7070199 DOI: 10.1161/JAHA.119.014006
– Looking at New Unexpected Disease Targets in <i>LMNA</i>-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux
Cells, 2020 Mar 20, PMID: 32245113 PMCID: PMC7140635 DOI: 10.3390/cells9030765
– The French national protocol for Kennedy »s disease (SBMA): consensus diagnostic and management recommendations.
Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede & Claude Desnuelle on behalf of the French Kennedy’s Disease Writing Group
Orphanet J Rare Dis, 2020 Apr 10, PMID: 32276665 PMCID: PMC7149864 DOI: 10.1186/s13023-020-01366-z
– Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
G Solé, E Salort-Campana, Y Pereon, T Stojkovic, K Wahbi, P Cintas, D Adams, P Laforet, V Tiffreau, I Desguerre, L I Pisella, A Molon, S Attarian, FILNEMUS COVID-19 study group
Rev Neurol (Paris), 2020 Jun, PMID: 32354651 PMCID: PMC7167585 DOI: 10.1016/j.neurol.2020.04.004
2019
– Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.
Circulation, 2019 Jul 23, PMID: 31155932, DOI: 10.1161/CIRCULATIONAHA.118.039410
2018
– High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.
Sochala M, Porcher R, Stojkovic T, Bécane HM, Béhin A, Laforêt P, Bassez G, Leonard-Louis S, Eymard B, Furling D, Duboc D, Wahbi K.
Circulation, 2018 Sep 11, PMID: 30354391 DOI: 10.1161/CIRCULATIONAHA.118.035035
– Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D.
JAMA Neurol, 2018 May 1, PMID: 29404559 PMCID: PMC5885178 DOI: 10.1001/jamaneurol.2017.4778
2017
– Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.
Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G.
Nat Commun, 2017 Jul 25, PMID: 28742067 PMCID: PMC5537486 DOI: 10.1038/ncomms16105
– Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.
Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D.
Eur Heart J, 2017 Mar 7, PMID: 27941019 DOI: 10.1093/eurheartj/ehw569
2015
– Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.
Wahbi K, Bougouin W, Béhin A, Stojkovic T, Bécane HM, Jardel C, Berber N, Mochel F, Lombès A, Eymard B, Duboc D, Laforêt P.
Eur Heart J, 2015 Nov 7, PMID: 26224072 DOI: 10.1093/eurheartj/ehv307
2012
– Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease.
Wahbi K, Meune C, Porcher R, Bécane HM, Lazarus A, Laforêt P, Stojkovic T, Béhin A, Radvanyi-Hoffmann H, Eymard B, Duboc D.
JAMA, 2012 Mar 28, PMID: 22453570 DOI: 10.1001/jama.2012.346
- Karim Wahbi – World Muscle Society congress- Copenhagen – Muscle disease specialists
- Karim Wahbi – Rhythm days of Lyon – Lyon – Cardiologists
- Karim Wahbi – European Society of Cardiology congress – Paris – Cardiologists (2 presentations)
- Karim Wahbi – 3rd International Meeting on Laminopathies / 9th Nuclear Envelope Diseases and Chromatin Organization Meeting – London – Neurologists, researchers, cardiologists
- Karim Wahbi – Myology congress – Bordeaux – Doctors, researchers, patients
Early preventive treatment with angiotensin-converting enzyme inhibitors in Duchenne muscular dystrophy.
INSERM | 03.23.2021
Teams from the Cochin, Hôtel-Dieu and Necker-Enfants malades hospitals of the AP-HP, the University of Paris and Inserm, in collaboration with the French national reference center for neuromuscular diseases North/East/Île-de-France and with the support of the Monegasque association against myopathies, have conducted research on the impact of early preventive treatment with angiotensin converting enzyme inhibitor (ACEI) in Duchenne muscular dystrophy. The results of this work show that this early preventive treatment for patients with Duchenne muscular dystrophy aged 8 years or older is associated with a significantly higher overall survival and a lower rate of hospitalization for the patients managed. The results of this work were published on March 22, 2021, in the European Heart Journal.
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At Cochin hospital, the reference center for neuromuscular diseases in brief …
* data valid for 2022