Objectives Diagnosis of cardiac sarcoidosis (CS) without histological evidence remains controversial. This study aimed to compare characteristics and outcomes of histologically proven versus clinically diagnosed cases of CS, which were adjudicated using Heart Rhythm Society or Japanese Circulation Society criteria.
Methods A total of 512 patients with CS (age: 62±11 years, female: 64.3%) enrolled in the multicentre registry were studied. Histologically confirmed patients were classified as ‘biopsy-proven CS’, while those with the presence of strongly suggestive clinical findings of CS without histological evidence were classified as ‘clinical CS’. Primary outcome was a composite of all-cause death, heart failure hospitalisation and ventricular arrhythmia event.
Results In total, 314 patients (61.3%) were classified as biopsy-proven CS, while 198 (38.7%) were classified as clinical CS. Patients classified under clinical CS were associated with higher prevalence of left ventricular dysfunction, septal thinning, and positive findings in fluorodeoxyglucose-positron emission tomography or Gallium scintigraphy than those under biopsy-proven CS. During median follow-up of 43.7 (23.3–77.3) months, risk of primary outcome was comparable between the groups (adjusted HR: 1.24, 95% CI: 0.88 to 1.75, p=0.22). Similarly, the risks of primary outcome were comparable between patients with clinical isolated CS who did not have other organ/tissue involvement, and biopsy-proven isolated CS (adjusted HR: 1.23, 95% CI: 0.56 to 2.70, p=0.61).
Conclusions A substantial number of patients were diagnosed with clinical CS without confirmatory biopsy. Considering the worse clinical outcomes irrespective of the histological evidence, the diagnosis of clinical CS is justifiable if imaging findings suggestive of CS are observed.
- heart failure
- outcome assessment, health care
Data availability statement
Data are available upon reasonable request.
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Contributors All the authors had full access to all the data in the study. TK takes responsibility for the overall content as the guarantor. Concept and design—TK, TN, YN, TT and YMatsue. Acquisition, analysis or interpretation of data—all authors. Drafting of the manuscript—TK, CM, TN, YN, TT, YMatsue and CI. Critical revision of the manuscript for important intellectual content—TK, TN, YN, TT, HT, TO, YB, YF, YMatsue and CI. Statistical analysis—TK, CM and SK. Administrative, technical or material support—TK, SK, YMiyoshi, TN, YN, TT, YMatsue and CI. Supervision—YF and CI.
Funding ILLUMINATE-CS was partially supported by the Novartis Pharma Research Grants.
Competing interests HT is a consultant for AstraZeneca, Ono Pharmaceutical Company, Pfizer and Novartis International. TO received honoraria from Ono Yakuhin, Otsuka, Novartis and AstraZeneca, and research grants from Ono Yakuhin, Amgen Astellas, Pfizer, Alnylam and Alexion (not in connection with the submitted work). YM received an honorarium from Otsuka Pharmaceutical Co and Novartis Japan. Other authors have nothing to declare.
Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.
Provenance and peer review Not commissioned; externally peer reviewed.
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