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Cardiovascular manifestations of Erdheim-Chester disease
A Berti1, M Ferrarini2, E Ferrero2
1Vita-Salute San Raffaele University, Milan; and Department of Medicine and Clinical Immunology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Insights
Erdheim-Chester disease (ECD) can affect the heart, often without symptoms. Early screening with advanced imaging is crucial for detecting this rare condition and improving patient outcomes.
Area of Science:
- Rare inflammatory disorders
- Non-Langerhans cell histiocytosis
- Cardiovascular pathology
Background:
- Erdheim-Chester disease (ECD) is a rare, systemic histiocytic disorder of unknown cause.
- It typically involves bones but frequently affects extraskeletal organs, including the cardiovascular system.
- Cardiovascular involvement in ECD is linked to poor prognosis and reduced treatment efficacy.
Purpose of the Study:
- To review the cardiovascular manifestations of Erdheim-Chester disease.
- To highlight the role of cardiac imaging in diagnosing and assessing ECD.
- To emphasize the need for systematic cardiovascular screening in ECD patients.
Main Methods:
- Review of existing literature on Erdheim-Chester disease and cardiovascular involvement.
- Analysis of findings from cardiac cine MRI and other sensitive imaging modalities.
- Synthesis of data on prevalence, clinical presentation, and prognostic implications.
Main Results:
- Cardiovascular involvement is more common than previously recognized, often asymptomatic.
- Key cardiac findings include pericardial effusion, "coated aorta", and right atrial masses.
- Cardiac cine MRI has improved the detection of subclinical ECD-related cardiovascular changes.
Conclusions:
- Cardiovascular involvement is a significant feature of Erdheim-Chester disease, impacting prognosis.
- Systematic screening for cardiac manifestations using sensitive imaging is recommended for all ECD patients.
- Further research and comprehensive reviews are needed to guide clinical management and understanding of ECD's cardiovascular impact.
Abstract:
Erdheim-Chester disease (ECD) is a rare inflammatory disorder of unknown etiology, characterised by diffuse organ infiltration of CD68-positive, CD1a-negative, S100-low/negative foamy histiocytes. It is a non-Langerhans cell histiocytosis which invariably involves bones (96% of cases). Extraskeletal involvement is observed in about 50% of cases. Cardiovascular involvement affects more than 20% of patients and associates with poor prognosis, conferring a reduced response to treatment. Frequent findings are pericardial effusion (24% of patients), "coated aorta", a perivascular circumferential thickening of the aorta, and pericardial thickening. Other typical features include right atrial mass with pseudo-tumoural appearance and histiocytes' infiltration of right atrial walls, atrioventricular sulcus and interatrial septum. After the recent introduction of cardiac cine MRI in the clinical assessment of patients affected by ECD, a growing body of case reports and retrospective data showed that cardiovascular involvement is present more frequently than previously thought and that it is relatively often asymptomatic. Hence, clinicians should systematically screen ECD patients for occult cardiovascular involvement by means of highly sensitive imaging tools. Despite these recent novelties, comprehensive literature reviews focusing on ECD cardiovascular involvement and its imaging assessment in the last decade are lacking.
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