Review
Heart Fail Clin. 2022 Jan;18(1):51-60. doi: 10.1016/j.hfc.2021.07.003. Epub 2021 Oct 26.
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options Michele Lioncino 1, Emanuele Monda 1, Martina Caiazza 1, Adelaide Fusco 1, Annapaola Cirillo 1, Francesca
Dongiglio 1, Vicenzo Simonelli 2, Simone Sampaolo 3, Lucia Ruggiero 4, Gioacchino Scarano 1, Vicenzo Pota 5, Giulia Frisso 6, Cristina Mazzaccara 6, Giulia D'Amati 7, Gerardo Nigro 8, Maria Giovanna Russo 9, Karim Wahbi 10, Giuseppe Limongelli 11
• 1Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
• 2Division of Neurology, AORN Dei Colli, Monaldi Hospital, Naples.
• 3Second Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
• 4Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.
• 5Department of Women, Child and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Piazza L. Miraglia 2, 80138 Naples, Italy.
• 6Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy;
CEINGE Biotecnologie Avanzate, Scarl, Naples, Italy; CEINGE Advanced Biotechnologies, 80145 Naples, Italy.
• 7Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Rome, Italy.
• 8Department of Medical Translational Sciences, Division of Cardiology, Monaldi Hospital, University of Campania
"Luigi Vanvitelli", Naples, Italy.
• 9Pediatric Cardiology Unit, Monaldi Hospital, University "Luigi Vanvitelli", Naples, Italy.
• 10APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
• 11Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples. Electronic address: limongelligiuseppe@libero.it.
• PMID: 34776083
• DOI: 10.1016/j.hfc.2021.07.003
Keywords: Hypertrophic cardiomyopathy; MELAS syndrome; Mitochondrial diseases; mtDNA.
Kardiol Pol. 2021 Nov 16. doi: 10.33963/KP.a2021.0159. Online ahead of print.
Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss Muscular Dystrophy in a long-term follow-up
Michał Marchel 1, Agnieszka Madej-Pilarczyk 2, Roman Steckiewicz 3, Przemysław Stolarz 3, Michał Peller 3, Agata Tymińska 3, Ewa Ostrowska 3, Krzysztof Ozierański 3, Paweł Balsam 3, Marcin Grabowski 3, Grzegorz Opolski 3
• 11st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.
michal.marchel@wum.edu.pl.
• 2Department of Medical Genetics, The Children's Memorial Health Institute, Warszawa, Poland.
• 31st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.
• PMID: 34783354
• DOI: 10.33963/KP.a2021.0159
Keywords: EMD; LMNA; cardiomyopathy; heart failure; laminopathy.
Case Reports
BMJ Case Rep. 2021 Nov 11;14(11):e244745. doi: 10.1136/bcr-2021-244745.
Non-compaction cardiomyopathy, Becker muscular dystrophy, neuropathy and recurrent syncope Love Shah 1, Ingrid Tam 2, Shravan Nosib 3
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
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• 1Internal Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
• 2Pathology and Lab Medicine, University of Saskatchewan College of Medicine, Saskatoon, Saskatchewan, Canada.
• 3Cardiology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada shravan.nosib@gmail.com.
• PMID: 34764091
• PMCID: PMC8587471 (available on 2023-11-11)
• DOI: 10.1136/bcr-2021-244745
Keywords: arrhythmias; cardiovascular medicine; cardiovascular system; heart failure; neurology.
Am J Cardiol. 2021 Oct 29;S0002-9149(21)00936-X. doi: 10.1016/j.amjcard.2021.09.016. Online ahead of print.
Value of Global Longitudinal Strain for Identification and Monitoring of Left Ventricular Dysfunction in Becker Muscular Dystrophy
Nienke M van de Velde 1, Tea Gegenava 2, Zaïda Koeks 3, Steele C Butcher 2, Arno Aw Roest 4, Jeroen J Bax 2, Douwe E Atsma 2, Pietro Spitali 5, Nina Ajmone Marsan 2, Erik H Niks 6
• 1Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands; Duchenne Center Netherlands.
• 2Department of Cardiology, Heart Lung Center, Leiden University Medical Center, Leiden, The Netherlands.
• 3Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
• 4Division of Paediatric Cardiology, Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands.
• 5Duchenne Center Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
• 6Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands; Duchenne Center Netherlands. Electronic address: e.h.niks@lumc.nl.
• PMID: 34756724
• DOI: 10.1016/j.amjcard.2021.09.016
Case Reports
Cureus. 2021 Oct 8;13(10):e18604. doi: 10.7759/cureus.18604. eCollection 2021 Oct.
Muscular Dystrophy and Heart Failure: An Unusual Association João P Pais 1, Marta B Sousa 1, Ana R Cambão 1, Ana Nascimento 1, Diana Guerra 1
• 1Internal Medicine, Unidade Local de Saúde do Alto Minho (ULSAM) - Hospital de Santa Lúzia, Viana do Castelo, PRT.
• PMID: 34786221
• PMCID: PMC8577820
• DOI: 10.7759/cureus.18604
Keywords: cardiovascular disease; genetic disease; heart failure; myotonic dystrophy; neuromuscular disease.
Review
Int J Mol Sci. 2021 Nov 2;22(21):11874. doi: 10.3390/ijms222111874.
Cardiac Pathology in Myotonic Dystrophy Type 1 Mani S Mahadevan 1, Ramesh S Yadava 1, Mahua Mandal 1
• 1Department of Pathology, University of Virginia, Charlottesville, VA 22908, USA.
• PMID: 34769305
• PMCID: PMC8584352
• DOI: 10.3390/ijms222111874
Keywords: RNA foci; RNA splicing; RNA toxicity; antisense oligonucleotides; cardiac conduction; cardiac pathology; fatty infiltration; fibrosis; myotonic dystrophy; sudden death; triplet repeat mutation.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
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Case Reports
Eur Heart J Case Rep. 2021 Oct 12;5(11):ytab409. doi: 10.1093/ehjcr/ytab409. eCollection 2021 Nov.
Paradoxical cardiac conduction during exercise stress testing in myotonic dystrophy type 1: a case report
Suliman Ahmad 1, Peter Kabunga 2 3
• 1Faculty of Life Sciences, Kings College London, London, SE1 1UL UK.
• 2Department of Cardiology, Darent Valley Hospital, Darenth Wood Rd, Dartford, Kent DA2 8DA, UK.
• 3Department of Cardiology, King's College Hospital, Denmark Hill, London, SE5 9RS, UK.
• PMID: 34746639
• PMCID: PMC8567071
• DOI: 10.1093/ehjcr/ytab409
Keywords: Case report; Electrophysiology study; Exercise stress testing; Myotonic dystrophy type 1; Permanent pacemaker.
Intern Med. 2021 Nov 13. doi: 10.2169/internalmedicine.8314-21. Online ahead of print.
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure Mizuki Ito 1 2, Sayuri Shima 1, Nagao Ryunosuke 1, Shoko Nakano 1, Konoka Esaka 1, Akihiro Ueda 1, Shingo Maeda 3, Ryoma Moriya 3, Masashi Kondo 3, Kazuyoshi Imaizumi 3, Seiya Noda 4 5, Masahisa Katsuno 4, Ichizo Nishino 6, Hirohisa Watanabe 1
• 1Department of Neurology, Fujita Health University, School of Medicine, Japan.
• 2Department of Neurology, Fujita Health University Bantane Hospital, Japan.
• 3Department of Respiratory Medicine, Fujita Health University, School of Medicine, Japan.
• 4Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
• 5Department of Neurology, National Hospital Organization Suzuka Hospital, Japan.
• 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.
• PMID: 34776486
• DOI: 10.2169/internalmedicine.8314-21
Keywords: Nemaline myopathy; nebulin; respiratory muscle paralysis; right heart failure; type 2 respiratory failure.
Case Reports
Neuromuscul Disord. 2021 Sep 21;S0960-8966(21)00651-9. Online ahead of print.
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
Juliana Gurgel-Giannetti 1, Lucas Santos Souza 2, Guilherme Ferraz Messina de Pádua Andrade 3, Maria de Fátima Derlene 4, Zilda Maria Alves Meira 4, Beatriz Vilela Morais Azevedo 5, Wilson Campos Jr 6, Sabrina Stephanie Lana Diniz 5, Marina Belisario Carvalhais 5, Juliana Rodrigues Soares Oliveira 3, Livia Uliana 5, Renato Bráulio 3, Paulo Henrique Nogueira Costa 3, Geraldo Brasileiro Filho 7, Mariz Vainzof 2
• 1Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil. Electronic address:
gurgelju@yahoo.com.br.
• 2Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center from University of São Paulo, Brazil.
• 3Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
• 4Department of Pediatrics, Service of Pediatric Cardiology from Federal University of Minas Gerais, Brazil.
• 5Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
• 6Department of Radiology, Hospital Mater Dei Contorno, Belo Horizonte, Brazil.
• 7Department of Pathology, Federal University of Minas Gerais, Brazil.
• PMID: 34742623
• DOI: 10.1016/j.nmd.2021.09.005
Keywords: Congenital fiber type disproportion; Congenital myopathy; Dilated cardiomyopathy; Fiber size disproportion;
Muscle biopsy; Speg.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
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Rheumatology (Oxford). 2021 Nov 16;keab851. doi: 10.1093/rheumatology/keab851. Online ahead of print.
Cardiovascular events in adult polymyositis and dermatomyositis: a meta-analysis of observational studies
Anji Xiong 1 2, Ziyi Hu 1, Shifeng Zhou 1, Yiying Qiang 1, Zhuoyao Song 1, Huini Chen 1, Qilang Xiang 1, Yan Zhang 1, Yuzi Cao 1, Hongxu Cui 1, Jie Luo 1, Ye Wang 1, Yuan Yang 3, Beibei Cui 4, Menglan Li 1 2, Shiquan Shuai 1 2
• 1Department of Rheumatology and Immunology, Nanchong Central Hospital, Affiliated Nanchong Central Hospital of North Sichuan Medical College, Nanchong, China.
• 2Inflammation and Immunology Key Laboratory of Nanchong City, Sichuan, China.
• 3Department of Rheumatology and Immunology, The First Affiliated Hospital of Chengdu Medical College, Chengdu, China.
• 4Department of Rheumatology and Immunology, West China Hospital, Sichuan University, Chengdu, China.
• PMID: 34791063
• DOI: 10.1093/rheumatology/keab851
Keywords: cerebrovascular accidents; dermatomyositis; ischaemic heart disease; meta-analysis; polymyositis; venous disease; venous thromboembolism.
J Cardiovasc Magn Reson. 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6.
Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
Edyta Blaszczyk 1 2, Carolin Lim 1 2, Peter Kellman 3, Luisa Schmacht 1, Jan Gröschel 1 2, Simone Spuler 4, Jeanette Schulz-Menger 5 6
• 1Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
• 2DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
• 3National Heart, Lung and Blood Institute, National Institute of Health, Bethesda, USA.
• 4Muscle Research Unit, Experimental and Clinical Research Center a Jointoint Cooperationoperation Betweenetween the Charité Medical, Berlin, Germany.
• 5Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
jeanette.schulz-menger@charite.de.
• 6DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany. jeanette.schulz-menger@charite.de.
• PMID: 34743704
• PMCID: PMC8573966
• DOI: 10.1186/s12968-021-00812-6
Keywords: Facioscapulohumeral muscular dystrophy type 1; Fat; Fibrosis; Magnetic Resonance Imaging; Myotonic dystrophy type 2; Remodeling.