Atsuko Nishikawa1,2,3, Madoka Mori-Yoshimura1, Kazuhiko Segawa4, Yukiko K Hayashi3,5, Toshiaki Takahashi6, Yuko Saito7, Ikuya Nonaka8, Martin Krahn9,10, Nicolas Levy9,10, Jun Shimizu11, Jun Mitsui11, En Kimura12, Jun Goto11,13, Naohiro Yonemoto12, Masashi Aoki14, Ichizo Nishino3,12, Yasushi Oya1, Miho Murata1. 1. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 2. Department of Education Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan. 3. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. 4. Department of Cardiology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 5. Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan. 6. Department of Neurology and Division of Clinical Research, Sendai Nishitaga National Hospital, Miyagi, Japan. 7. Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 8. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 9. Aix-Marseille University, UMR 910 INSERM, Faculté de Médecine Timone, Marseille, France. 10. APHM, Hôpital d'Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, Marseille, France. 11. Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. 12. Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Ogawahigashi, Tokyo, Japan. 13. Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan. 14. Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan.
Abstract
INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography (n = 23). RESULTS: Of the 47 patients, 10 had reduced percent forced vital capacity (%FVC), and 4 required non-invasive positive pressure ventilation. %FVC was significantly correlated with disease duration, and mean %FVC was significantly lower in non-ambulatory patients, as well as in those aged ≥65 years with normal creatine kinase levels. On electrocardiography, QRS complex duration was prolonged in 19 patients, although no significant association with age, disease duration, or respiratory function was found. Echocardiography indicated no left ventricular dysfunction in any patient. Histopathology of autopsied cases revealed mild cardiomyopathy and moderate diaphragm involvement. CONCLUSION: Patients with dysferlinopathy may develop severe respiratory failure and latent cardiac dysfunction. Both respiratory and cardiac function should be monitored diligently.
INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography (n = 23). RESULTS: Of the 47 patients, 10 had reduced percent forced vital capacity (%FVC), and 4 required non-invasive positive pressure ventilation. %FVC was significantly correlated with disease duration, and mean %FVC was significantly lower in non-ambulatory patients, as well as in those aged ≥65 years with normal creatine kinase levels. On electrocardiography, QRS complex duration was prolonged in 19 patients, although no significant association with age, disease duration, or respiratory function was found. Echocardiography indicated no left ventricular dysfunction in any patient. Histopathology of autopsied cases revealed mild cardiomyopathy and moderate diaphragm involvement. CONCLUSION:Patients with dysferlinopathy may develop severe respiratory failure and latent cardiac dysfunction. Both respiratory and cardiac function should be monitored diligently.
Authors: Elizabeth Harris; Catherine L Bladen; Anna Mayhew; Meredith James; Karen Bettinson; Ursula Moore; Fiona E Smith; Laura Rufibach; Avital Cnaan; Diana X Bharucha-Goebel; Andrew M Blamire; Elena Bravver; Pierre G Carlier; John W Day; Jordi Díaz-Manera; Michelle Eagle; Ulrike Grieben; Matthew Harms; Kristi J Jones; Hanns Lochmüller; Jerry R Mendell; Madoka Mori-Yoshimura; Carmen Paradas; Elena Pegoraro; Alan Pestronk; Emmanuelle Salort-Campana; Olivia Schreiber-Katz; Claudio Semplicini; Simone Spuler; Tanya Stojkovic; Volker Straub; Shin'ich Takeda; Carolina Tesi Rocha; M C Walter; Kate Bushby Journal: Neurol Genet Date: 2016-08-04
Authors: Ursula Moore; Roberto Fernandez-Torron; Marni Jacobs; Heather Gordish-Dressman; Jordi Diaz-Manera; Meredith K James; Anna G Mayhew; Elizabeth Harris; Michela Guglieri; Laura E Rufibach; Jia Feng; Andrew M Blamire; Pierre G Carlier; Simone Spuler; John W Day; Kristi J Jones; Diana X Bharucha-Goebel; Emmanuelle Salort-Campana; Alan Pestronk; Maggie C Walter; Carmen Paradas; Tanya Stojkovic; Madoka Mori-Yoshimura; Elena Bravver; Elena Pegoraro; Linda Pax Lowes; Jerry R Mendell; Kate Bushby; John Bourke; Volker Straub Journal: Muscle Nerve Date: 2022-03-05 Impact factor: 3.852