A new study from IEMR illustrates why interdisciplinary collaborations are especially important for rare diseases: The paper by first author Simon Berger from the Stokke group and co-authors from IEMR and Department of Rheumatology, Dermatology and Infectious Diseases at OUS Rikshospitalet, reports cardiovascular pathology in 39 % of patients with mixed connective tissue disease (MCTD). This rare autoimmune disorder can affect multiple organ systems, but the prevalence and risk factors of cardiac dysfunction has been unknown. Cardiac dysfunction documented by echocardiography was associated with disease activity, but was independent of cardiovascular risk factors and pulmonary disease, often seen in MCTD patients. The study highlights the importance of recognizing cardiac dysfunction as part of the multi-organ affection in patients with MCTD. Further studies are needed to understand the underlying mechanisms, establish the role of cardiological evaluation in the follow-up of these patients, and potentially establish effective preventive and therapeutic strategies.
Exemplary echocardiographic images used to assess TAPSE (Tricuspid Annular Plane Systolic Excursion). a) An M-mode view of a healthy control showed a TAPSE of 28 mm. b) In a patient with mixed connective tissue disease (MCTD), TAPSE was reduced to 14 mm.