Cardiovascular manifestations of Erdheim-Chester disease

Introduction: Erdheim-Chester disease is a rare, multisystem hematologic disease. Cardiovascular involvement is seen in patients with Erdheim-Chester disease and can lead to increased morbidity and mortality. In this series, we report various cardiovascular manifestations of patients with Erdheim-Chester disease.

Methods: This study includes patients with Erdheim-Chester disease who were referred to our institution from 12/3/2009 through 12/13/2017. All patients had biopsy-proven Erdheim-Chester disease. Clinical data, multimodality imaging, and cardiac tests were reviewed.

Results: Cardiovascular findings in 24 patients with Erdheim-Chester disease were included in the study. We reviewed available transthoracic echocardiograms, whole body PET/CT scans, and CMR studies. Most patients were male and mean age at the time of diagnosis was 58 years. Pericardial involvement (13%), myocardial infiltration (25%), endocardial involvement (4%), valvular disease (17%), aortic/vascular disease (17%), conduction system infiltration (8%), and coronary artery disease (25%) were present. At a median follow-up of 5.5 years, mortality was 17%.

Conclusions: Erdheim-Chester disease can involve various cardiovascular structures and is frequently diagnosed on an imaging modality. Some patients had asymptomatic involvement, but others presented with ischemic heart disease, heart failure, valvular disease, and conduction system abnormalities. Early recognition of cardiovascular involvement of Erdheim-Chester disease is needed because of high morbidity and mortality.