Int J Cardiovasc Imaging. 2021 Dec 14. doi: 10.1007/s10554-021-02369-y. Online ahead of print.
Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy
Nicolas Lanot 1, Marie Vincenti 1 2, Hamouda Abassi 1 2, Charlene Bredy 1, Audrey Agullo 1, Lucie Gamon 3, Thibault Mura 4, Kathleen Lavastre 1, Gregoire De La Villeon 1 5, Catherine Barrea 6, Pierre Meyer 2 7, François Rivier 2 7, Albano C Meli 2, Jeremy Fauconnier 2, Olivier Cazorla 2, Alain Lacampagne # 2, Pascal Amedro # 8 9 10
• 1Paediatric and Adult Cardiology Department, M3C Regional Reference CHD Center, CHU Montpellier, Montpellier, France.
• 2PhyMedExp, University of Montpellier, CNRS, INSERM, CHU Montpellier, Montpellier, France.
• 3Epidemiology and Clinical Research Department, CHU Montpellier, Montpellier, France.
• 4Epidemiology and Clinical Research Department, CHU Nimes, Nimes, France.
• 5Paediatric Cardiology and Rehabilitation Unit, Saint-Pierre Institute, Palavas-Les-Flots, France.
• 6Paediatric and Congenital Cardiology Department, Cliniques Universitaires Saint-Luc, UCL University, Brussels, Belgium.
• 7Paediatric Neurology, National Reference Center for Neuromuscular Diseases, CHU Montpellier, Montpellier, France.
• 8Department of Paediatric and Adult Congenital Cardiology, M3C National Reference Centre, Bordeaux University Hospital, Haut Lévêque Hospital, Avenue de Magellan, 33604, Pessac Cedex, France. pascal.amedro@chu-bordeaux.fr.
• 9University of Bordeaux, INSERM, Bordeaux Cardio-Thoracic Research Centre, U1045, Pessac, France.
pascal.amedro@chu-bordeaux.fr.
• 10IHU Liryc, Electrophysiology and Heart Modelling Institute, Fondation Bordeaux Université, Pessac, France.
pascal.amedro@chu-bordeaux.fr.
#Contributed equally.
• PMID: 34905152
• DOI: 10.1007/s10554-021-02369-y
Keywords: Cardiac dyssynchrony; DMD; Heart failure; Paediatrics; Speckle tracking.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) Prog Pediatr Cardiol. 2021 Dec;63:101460.
Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart Jamie R Johnston 1, Elizabeth M McNally 1
• 1Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
• PMID: 34898968
• PMCID: PMC8656413 (available on 2022-12-01)
• DOI: 10.1016/j.ppedcard.2021.101460
Keywords: Duchenne muscular dystrophy; dilated cardiomyopathy; gene therapy; genome editing; heart failure; pediatrics.
Front Neurol. 2021 Nov 23;12:720282. doi: 10.3389/fneur.2021.720282. eCollection 2021.
Autonomic Modulation in Duchenne Muscular Dystrophy During a Computer Task: A Prospective Transversal Controlled Trial Assessment by Non-linear Techniques
Mayra Priscila Boscolo Alvarez 1, Carlos Bandeira de Mello Monteiro 1 2, Talita Dias da Silva 1 3 4, Vitor E Valenti 5, Celso Ferreira-Filho 3, Annette Sterr 6, Luiz Carlos Marques Vanderlei 5, Celso Ferreira 3, David M Garner 7
• 1Programa de Pós-Graduação em Ciências da Reabilitação, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
• 2Escola de Artes, Ciências e Humanidades da Universidade de São Paulo (EACH/USP), São Paulo, Brazil.
• 3Departamento de Medicina (Cardiologia), Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil.
• 4Faculdade de Medicina, Universidade Cidade de São Paulo (UNICID), São Paulo, Brazil.
• 5Department of Studies on the Autonomic Nervous System, Faculty of Science and Technology, Universidade Estadual Paulista "Júlio de Mesquita Filho" (UNESP), São Paulo, Brazil.
• 6School of Psychology, University of Surrey, Guildford, United Kingdom.
• 7Cardiorespiratory Research Group, Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.
• PMID: 34887825
• PMCID: PMC8649622
• DOI: 10.3389/fneur.2021.720282
Keywords: Chaotic Global Techniques; Duchenne Muscular Dystrophy; autonomic nervous system; health care technology; heart rate variability.
J Am Coll Cardiol. 2021 Dec 14;78(24):2439-2453. doi: 10.1016/j.jacc.2021.10.014.
Stabilizing Ryanodine Receptors Improves Left Ventricular Function in Juvenile Dogs With Duchenne Muscular Dystrophy
Olivier Cazorla 1, Inès Barthélémy 2, Jin Bo Su 2, Albano C Meli 3, Valérie Chetboul 2, Valérie Scheuermann 3, Vassiliky Gouni 2, Camille Anglerot 3, Sylvain Richard 3, Stéphane Blot 2, Bijan Ghaleh 2, Alain Lacampagne 4
• 1Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France. Electronic address:
olivier.cazorla@inserm.fr.
• 2Univ Paris Est Creteil, INSERM, IMRB, Creteil, France; EnvA, IMRB, Maisons-Alfort, France.
• 3Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France.
• 4Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France. Electronic address:
alain.lacampagne@inserm.fr.
• PMID: 34886965
• DOI: 10.1016/j.jacc.2021.10.014
Keywords: contractile proteins; heart failure; left ventricular dysfunction; length dependent activation; myofilament properties; transmural heterogeneity.
Comment in Ryanodine Receptors Matter for Cardiac Function in Duchenne Muscular Dystrophy: Stability First. Kupatt C, Bozoglu T.J Am Coll Cardiol. 2021 Dec 14;78(24):2454-2456. doi: 10.1016/j.jacc.2021.10.012.PMID: 34886966
Editorial
J Am Coll Cardiol. 2021 Dec 14;78(24):2454-2456. doi: 10.1016/j.jacc.2021.10.012.
Ryanodine Receptors Matter for Cardiac Function in Duchenne Muscular Dystrophy: Stability First Christian Kupatt 1, Tarik Bozoglu 2
• 1Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, and DZHK (German Center for Cardiovascular Research), Munich Heart Alliance, Munich, Germany. Electronic address:
christian.kupatt@tum.de.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)
• 2Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, and DZHK (German Center for Cardiovascular Research), Munich Heart Alliance, Munich, Germany.
• PMID: 34886966
• DOI: 10.1016/j.jacc.2021.10.012
Keywords: ARM036; DMD; arrhythmias; calcium; ryanodine.
Comment on : Stabilizing Ryanodine Receptors Improves Left Ventricular Function in Juvenile Dogs With Duchenne Muscular Dystrophy. Cazorla O, Barthélémy I, Su JB, Meli AC, Chetboul V, Scheuermann V, Gouni V, Anglerot C, Richard S, Blot S, Ghaleh B, Lacampagne A.J Am Coll Cardiol. 2021 Dec 14;78(24):2439-2453. doi:
10.1016/j.jacc.2021.10.014.PMID: 34886965
Case Reports
Eur Heart J Case Rep. 2021 Aug 18;5(11):ytab342. doi: 10.1093/ehjcr/ytab342. eCollection 2021 Nov.
A case report of immune checkpoint inhibitor-related steroid-refractory myocarditis and myasthenia gravis-like myositis treated with abatacept and mycophenolate mofetil
Mette Syberg Jespersen 1, Søren Fanø 2, Christian Stenør 3, Anne Kirstine Møller 4
• 1National Center for Cancer Immune Therapy (CCIT-DK), Department of Oncology, Copenhagen University Hospital, Herlev, Denmark.
• 2Department of Cardiology, Copenhagen University Hospital, Herlev, Denmark.
• 3Department of Neurology, Copenhagen University Hospital, Herlev, Denmark.
• 4Department of Oncology, Copenhagen University Hospital, Herlev, Denmark.
• PMID: 34870082
• PMCID: PMC8637790
• DOI: 10.1093/ehjcr/ytab342
Keywords: Case report; Immune checkpoint inhibitors; Immune-related adverse events; Management of immune-related myocarditis; Renal cell carcinoma; Troponin I.
Case Reports
Am J Med Genet A. 2021 Dec 4. doi: 10.1002/ajmg.a.62590. Online ahead of print.
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods
Sharavana Gurunathan 1, Jessica Sebastian 2, Jennifer Baker 2, Hoda Z Abdel-Hamid 3, Shawn C West 4, Brian Feingold 5, Vivek Peche 6, Miguel Reyes-Múgica 7, Suneeta Madan-Khetarpal 2, Jeffrey Field 1
• 1Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
• 2Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
• 3Department of Pediatrics, Division of Child Neurology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
• 4Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
• 5Department of Pediatrics and Clinical and Translational Science, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
• 6Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
• 7Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
• PMID: 34862840
• DOI: 10.1002/ajmg.a.62590
Keywords: SRF pathway; SRV2; actin dynamics; cardiac fibrosis; cofilin; sarcomere.
Mod Rheumatol. 2021 Aug 11;roab041. doi: 10.1093/mr/roab041. Online ahead of print.
Left ventricle diastolic dysfunction in idiopathic inflammatory myopathies: A meta-analysis and systematic review
Yiwen Zhang 1, Xiaoqian Yang 1, Li Qin 1, Qiang Luo 1, Han Wang 1
• 1Department of Cardiology, Affiliated Hospital of Southwest Jiaotong University, The Third People's Hospital of Chengdu, Chengdu, China.
• PMID: 34910205
• DOI: 10.1093/mr/roab041
Keywords: Diastolic function; echocardiography; heart failure; idiopathic inflammatory myopathies.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)
Rev Neurol (Paris). 2021 Dec 9;S0035-3787(21)00775-X. Online ahead of print.
Cognitive impairment in glycogen storage disease type III with severe heart failure: A case report M Michaud 1, C Dillier 2, M Selton 2, N Michot 3, A Metzdorf 4, M Debouverie 2
• 1Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France. Electronic address: m.michaud@chru-nancy.fr.
• 2Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.
• 3Department of Endocrinology, Diabetology and Nutrition, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France.
• 4Department of Cardiology, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France.
• PMID: 34895909
• DOI: 10.1016/j.neurol.2021.09.011
Case Reports
Neuromuscul Disord. 2021 Dec;31(12):1282-1286. doi: 10.1016/j.nmd.2021.10.002. Epub 2021 Oct 9.
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors
Tsuyoshi Matsumura 1, Kimiko Inoue 2, Keiko Toyooka 2, Michio Inoue 3, Aritoshi Iida 3, Yoshihiko Saito 3, Tatsuya Nishikawa 4, Kenji Moriuchi 5, Goichi Beck 6, Ichizo Nishino 3, Harutoshi Fujimura 2
• 1Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan. Electronic address: matsumura.tsuyoshi.kq@mail.hosp.go.jp.
• 2Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan.
• 3Department of Neuromuscular Research, National Center of Neurology, Psychiatry, Ogawahigashi 4-1-1, Kodaira, Tokyo 187-8551, Japan.
• 4Department of Onco-Cardiology, Osaka International Cancer Institute, Otemae 3-1-69, Chuo-ku, Osaka City, Osaka, 541-8567, Japan.
• 5Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Kishibe-Shinmachi 6-1, Suita, Osaka 564-8565, Japan.
• 6Department of Neurology, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, Osaka 565-0871, Japan.
• PMID: 34857437
• DOI: 10.1016/j.nmd.2021.10.002
Keywords: Breast cancer; Cardiomyopathy; Filamin C; Myofibrillar myopathy; Urinary bladder tumor.
Muscle Nerve. 2021 Dec 4. doi: 10.1002/mus.27471. Online ahead of print.
A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement Constantinos Papadopoulos 1, Kiriaki Kekou 2, Aris Anastasakis 3, Maria Svingou 2, Edoardo Malfatti 4, Corinne
Metay 5, Margarita Chrysanthou 1, Christina Paschou 1, Dimitris Miliopoulos 6, Georgios Efthimiadis 7, Stamatios Adamopoulos 6, George Papadimas 1
• 1Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
• 2Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia"
Children's Hospital, Athens, Greece.
• 3Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece.
• 4Neuromuscular Reference Center, Henri Mondor University Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
• 5APHP, Centre de Génétique Moléculaire et Chromosomique, Service de Biochimie Métabolique, U.F de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Groupe Hospitalier La Pitié-Salpêtrière Charles Foix, Paris, France.
• 6Heart Failure and Transplant Unit, Onassis Cardiac Surgery Centre, Athens, Greece.
• 7Cardiology Clinic AHEPA Hospital, Thessaloniki, Greece.
• PMID: 34862804
• DOI: 10.1002/mus.27471 No abstract available
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) Keywords: alpha-kinase 3; cardiomyopathy; myofibrillar disorganization; skeletal myopathy; vacuoles.
Med Sci (Paris). 2021 Nov;37 Hors série n° 1:49. doi: 10.1051/medsci/2021195. Epub 2021 Dec 8.
[Looking for genetic modifying factors in cardiomyopathies]
[Article in French]
Louise Benarroch 1
• 1Sorbonne Université, Inserm, Centre de Recherche en Myologie, Institut de Myologie, Paris, France.
• PMID: 34878398
• DOI: 10.1051/medsci/2021195
Article in MYOBASE : https://www.myobase.org/index.php?lvl=notice_display&id=73904