Related Experiment Video
Updated: Nov 10, 2025
Detection of Anti-MDA5 Autoantibodies Using HeLa Cells and Immunocytochemistry with Light Microscopy
Published on: October 31, 2025
Anti-MDA5 juvenile idiopathic inflammatory myopathy with second-degree heart block but no skin or lung involvement: a
Meghan E Ryan1, Daniel Cortez2, Kelly R Dietz3
1Department of Pediatrics, Division of Rheumatology, Allergy & Immunology, University of Minnesota, Minneapolis, USA.
Background:
Patients with idiopathic inflammatory myopathy and autoantibodies directed against melanoma differentiation-associated protein 5 (MDA5) characteristically have interstitial lung disease, severe cutaneous involvement, arthritis, and relatively mild myositis. Cardiac involvement in idiopathic inflammatory myopathy can occur and has been associated with anti-signal recognition particle and anti-polymyositis-scleroderma autoantibodies, but not with anti-MDA5 autoantibodies.
Case Presentation:
A 14-year-old male presented with weakness, second-degree heart block, arthritis, and hematologic cytopenias. Imaging and biopsies confirmed the diagnosis of juvenile idiopathic inflammatory myopathy, and he had high titer anti-MDA5 autoantibodies. There were no cutaneous or pulmonary abnormalities. While on prednisone and methotrexate, the patient's heart block improved from second- to first-degree and the cytopenias resolved. Persistent myositis prompted the addition of intravenous immunoglobulin. Seven months into the disease course, the arthritis and myositis are in remission and the patient is no longer taking corticosteroids.
Conclusions:
We report a novel case of a patient with juvenile idiopathic myositis who lacked the typical cutaneous and pulmonary findings associated with anti-MDA5 positivity, but who had cardiac conduction defects. This report broadens the clinical spectrum of anti-MDA5-associated inflammatory myopathy.
