Undiagnosed Cardiac Sarcoidosis Has a Significant First Presentation as Sudden Cardiac Death: An Autopsy Review

Abstract

Purpose Clinical findings of cardiac sarcoidosis are evident in only about 5% of patients with sarcoidosis however approximately 20% of autopsies demonstrate myocardial involvement. The epidemiology and prognosis of cardiac sarcoidosis remains poorly understood. Methods Tissue archives of Mayo Clinic were queried for autopsy cases diagnosed with sarcoidosis between 1994-2017. Tissue slides were re-reviewed by a cardiovascular pathologist (JJM) to confirm the histologic diagnosis. Granulomatous infiltrate was described in terms of character and distribution within the heart. Results Thirty-six cases of sarcoidosis were identified in the autopsy archives; 12 of these decedents (5 women) were found to have cardiac sarcoidosis. Left ventricular (LV) and right ventricular hypertrophy or dilation was assessed (expected and actual weight of heart shown in Fig). Two-thirds of the patients experienced electrophysiology disturbances prior to death (Fig). Four patients were diagnosed with heart failure (HF) with a median LV ejection fraction of 45% (range: 20% - 60%). Three patients were diagnosed with non-ischemic HF (2 presumed from alcohol use and 1 idiopathic) and 1 patient was diagnosed with ischemic HF due to concurrent coronary artery disease . Conclusion Prior autopsy data demonstrate that while death from sarcoidosis is rare, cardiac involvement is the most common cause of sarcoidosis fatalities. Our data support prior studies over the last decade, demonstrating a low rate of pre-mortem diagnosis and that sudden cardiac death is common These data highlight a need to identify better screening tools for cardiac sarcoidosis.