Arrhythmias in patients with X-linked myotubular myopathy

• Published in: Revista de neurologiá 2023-08, Vol.77 (3), p.79
• Main Authors: Pons-Espinal, M, Clotet-Caba, J, Cesar-Díaz, S, Yubero-Siles, D
• Format: Article
• Language: eng ; spa
• Subjects: Arrhythmias, Cardiac; Humans; Male; Muscle Hypotonia; Muscle, Skeletal - pathology; Mutation; Myopathies, Nemaline; Myopathies, Structural, Congenital - complications; Myopathies, Structural, Congenital - genetics; Myopathies, Structural, Congenital - pathology
• ISSN: 1576-6578; 1576-6578
• DOI: 10.33588/rn.7703.2022222

Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support. These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.