To develop a definition and validated expert recommendations to diagnose primary heart involvement in systemic sclerosis - preliminary pathway to a T2T approach

Systemic sclerosis related primary heart involvement (SSc-pHI) is a leading cause of morbidity and mortality during the disease course. Despite the availability of Expert opinion papers on its detection and evaluation, there is heterogeneity regarding its definition, as well as granularity of data regarding the use of diagnostic tests for its evaluation in SSc. The aim of our study was to create a data- and consensus-driven definition of SSc-pHI and start its valiidation process. Consequently, we aimed at creating a consensus guidance to support clinicians in the screening, diagnosis and monitoring of SSc-pHI. Finally we applied the Consensus guidance retrospectively in a real-life cohort of SSc patients. Two different systematic literature reviews (SLRs) were carried on, the first aimed at identifying the different features of the possible manifestations of SSc-pHI, the second at gathering information on the diagnostic tests and related parameters used for the evaluation of cardiac involvement. The data derived from the two SLRs were used in Expert meetings, including specialists from the rheumatology, immunology, cardiology, pathology fields, as well as a patient research partner. The first meeting lead to the creation of a definition of SSc-pHI, which was partially validated for faesibility, criterion validity and reliability. The subsequent five meetings lead to the creation of a consensus guidance, composed of overarching principles and guidance statements, covering both the screening, diagnosis and monitoring assessments of SSc-pHI. In addition, SSc-specific echocardiography and cardiac magnetic resonance protocols were proposed, both for clinical core assessments and for optional/research agenda evaluations. The real-life retrospective evaluation of the Consensus guidance showed the added value of identifying at risk SSc-patients and regularly applying screening/diagnostic core evaluations, supporting their role in the detection of SSc-related cardiac events and complications. Future steps will include the prospective application of the consensus statements and the proposed ecocardiography/cardiac magnetic resonance protocol, leading the basis for a standardized detection of SSc-pHI and future testing of medications for its prevention and treatment.