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While cardiac manifestations in Rosai-Dorfman Disease are largely uncommon, they do occur and can further complicate the diagnosis of this rare blood disorder.

Cardiac-related manifestations of Rosai-Dorfman disease may occur more often than previously believed, according to findings recently published in Heart Surgery Forum.

“Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic disorder of non-neoplastic nature,” Nika Samadzadeh Tabrizi, MD-candidate, and colleagues write. “Rosai-Dorfman disease is a rare disease that typically presents as a nodal disease in young children. The etiology of the disease is currently unknown. Although concurrent extranodal involvement of various systems and tissues has been reported, manifestation in the cardiovascular system is extremely uncommon. Moreover, isolated extranodal involvement has been reported in only a handful of cases, limiting our understanding of this disease.”

Tabrizi and colleagues systematically reviewed published literature focusing on cases of Rosai-Dorfman disease with cardiac involvement by searching the Embase, PubMed, and Web of Science databases. The researchers gathered 42 publications that detailed 43 patients with cardiac manifestations of the disease, examining the management and treatment of the patients in each study. They also described a case study of a single patient with cardiac involvement of Rosai-Dorfman disease.

Literature Review

The studies included in the review consisted of 34 case reports and eight case abstracts.

Nine patients (20.9%) from the literature review were known to have Rosai-Dorfman disease before they exhibited cardiac manifestations of the condition, Tabrizi and colleagues report. About one-third of the patients (32.6%; n=14) had nodal involvement, whereas nearly half (n=20; 46.5%) reportedly had extranodal involvement.

The most common symptoms in the literature review were edema in the lower extremities, which occurred in 16.3% of patients; chest discomfort, which occurred in 41.9%; and dyspnea, which occurred in 48.8%. Cardiac involvement occurred most often in the pericardium (18.6%) and the right atrium (41.9%).

Median length of follow-up for study patients was 12 months (range, 1-36 months). Eight patients (18.6%) died. Surgery was the most common intervention, with 39.5% of patients undergoing operations (n=17), followed by systemic medical therapy (34.9%; n=15).

Case Study Details

Tabrizi and colleagues’ case study included a 46-year-old woman who was healthy aside from Rosai-Dorfman disease. The patient had a BMI of 39.4 and had not experienced recent illness, chest pain, cough, sputum, fever, leg swelling, weight loss, night sweats, or paroxysmal nocturnal dyspnea. Furthermore, her vital signs were all normal, the researchers wrote. Physical skin, respiratory, cardiovascular, and abdominal examinations appeared “unremarkable.” She appeared to have no lingual, axillary, head and neck, or suprascapular lymphadenopathy.

Tabrizi and colleagues also described the patient’s blood laboratory parameters as mostly unremarkable, being “significant” only for anemia, thrombocytopenia, and leukocytosis.

Pre-operative transesophageal echocardiography showed that the patient had a mass measuring 6 cm by 3.4 cm in her left interatrial septum that projected into the LA appendage, as well as the anterior leaflet of the mitral valve, which reduced the mobility of the mobility of the mitral valve leaflet, according to the researchers. The echocardiography also showed that the patient had “moderate-to-severe mitral regurgitation with no evidence of mitral stenosis and moderate dilation of the left atria.” Left ventricular ejection fraction was greater than 55%. The researchers suspected the woman had an atrial myxoma and recommended surgery.

Tabrizi and colleagues performed a right atriotomy and obtained an intraoperative frozen section of the mass. The mass reportedly showed dystrophic calcification and a benign neoplasm. The authors performed a radical septectomy with reconstruction, and a later pathology report showed that she had Rosai-Dofrman disease.

Four months after surgery, the authors conducted another transesophageal echocardiography, at which point they found no recurrence of the left atrial mass and normal ejection fraction.

The patient has reportedly experienced no symptoms for the past five years and has shown no evidence of recurrence.

Implications for Future Research

“RDD is a rare histiocytic disorder that often presents with nodal involvement, but it can affect any organ, often with a poor prognosis. Cardiac involvement, reported in just 43 cases so far, is particularly uncommon,” the researchers conclude. “In this group, most patients lacked a history of Rosai-Dofrman disease or nodal involvement, but approximately half had extracardiac manifestations.”

Because of this, they continued, it is often difficult to diagnose Rosai-Dorfman disease, particularly when it presents with easily misdiagnosed, isolated cardiac masses.

“We hope that our findings raise awareness in the medical community to improve the accurate diagnosis of Rosai-Dorfman disease,” Tabrizi and colleagues wrote. “We encourage patient enrollment in international registries to facilitate prospective studies to improve our understanding of how to best manage these patients and optimize their outcomes.”

Key Takeaways

• Only an estimated 20% of patients in the literature review by Tabrizi and colleagues were known to have Rosai-Dorfman disease before they exhibited cardiac manifestations of the condition.
• This rare histiocytic disorder often presents with nodal involvement, but it can affect any organ.
• The researchers aim to raise awareness, provide an accurate diagnosis of Rosai-Dorfman disease, and encourage patient enrollment to facilitate research and an improved understanding of the condition.