Dutch team confirms the importance of cardiorespiratory monitoring in patients with SEPN1- and LAMA2-related myopathies

A team from Radboud University in the Netherlands compiled the cardiac involvement of 192 cases of SEPN1-related myopathies (mean age 19 years) and 131 cases of LAMA2-related muscular dystrophies (mean age 14 years) published in the literature.

  • In both study populations, cardiac disorders may start in young patients: average age 17 years in LAMA2-related muscular dystrophies and average age 20 years in MSN1-related myopathies.
  • Cardiac disorders are more frequent in LAMA2-related muscular dystrophies (41%) than in MSN1-related myopathies (15%).
  • In LAMA2-related myopathies, they are encountered more often in patients with a total merosine deficiency (76%) than in those with a partial deficiency (24%).
  • Left ventricular systolic dysfunction and arrhythmia were the most frequent signs in LAMA2-related muscular dystrophies, whereas pulmonary hypertension, including right ventricular dysfunction due to respiratory failure, was more frequently reported in SEPN1-related myopathies.
  • Patients with LAMA2-related muscular dystrophies could have multiple cardiac abnormalities, but no patient with MSN1-related myopathies had more than one.
  • The authors confirm the relevance of current recommendations for the management of patients with congenital muscular dystrophies or congenital myopathies, with a cardiological check-up at least every two years, in addition to the post-diagnosis check-up, in people without cardiac symptoms.
  • They demonstrate the validity of this screening in childhood and recommend an electrocardiogram, holter and echocardiography for optimal monitoring.

 

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. Bouman, K., Gubbels, M., van den Heuvel, F. M. A., et al. Neuromuscul Disord. 2022 32(8): 635-642.