A 33-year-old female prisoner with a history of asthma bronchiale, sideropenic anemia and methamphetamine abuse was admitted to a hospital for 3 weeks of exertion dyspnea, chest discomfort, dry cough and epigastric pain.
Upon admission CT angio revealed intermediate to high-risk bilateral pulmonary embolism (PE) in lobar arteries, bilateral pleural effusion up to 1 cm and multiple small embolizations to the brain.
Figure 1 CT pulmonary artery angiography confirming bilateral pulmonary embolism
The patient was started on unfractionated heparin (UFH).
Initial echocardiography showed systolic dysfunction of both ventricles (LVEF 30-35%), apical akinesis of fibrotic myocardium and apical obliteration with organized thrombi, right ventricular outflow tract (RVOT) obstruction and circular pericardial separation up to 21 mm in width around right ventricle. Mild mitral and tricuspid regurgitation (1/4), dilated right atrium with two adherent round thrombi. All these findings were pointing towards a diagnosis of endomyocardial fibrosis (EMF).
Video 1 Four chamber view from TEE showing apical obstruction of both ventricles
Video 2 Thrombus in right atrium visible on TEE
Video 3 Severe triangular obstruction of RVOT visible on TEE
Investigation of endomyocardial fibrosis etiology followed with laboratory testing. Eosinophilia was not present at this time and parasitology tests revealed only border-line levels of antibodies against Taenia solium (cysticercosis).
Elevation of marker Ca-125 could mean a paraneoplastic etiology, but whole body CT scan showed only mild hepatomegaly and ascites with no other sign of malignant processes.
The only other promising etiologic factor could be vasculitis with positive anti ds-DNA and ANCA anti-MPO antibodies. Patient was referred to a rheumatology department for further investigation.
Other imaging techniques were performed to further define the tissue characteristic of the intracardiac masses and the underlying cardiac tissue. Cardiac MR could not be unfortunately performed for patient’s claustrophobia and non-cooperation. CT angio of the heart confirmed changes similar to endomyocardial fibrosis with intracardiac thrombi in both ventricles and right atrium, bilateral PE, pericardial and pulmonary effusion.
Figure 2 Cardiac CT confirming apical obstruction of both ventricles
On the 10th day the patient developed heparin induced thrombocytopenia (HIT) and unfractionated heparin (UFH) was changed to fondaparinux (Arixtra) in combination with acetylsalicylic acid (ASA).
Intracardiac echocardiography with endomyocardial biopsy (EMB) of the intracardiac mass from the right ventricle was performed on the 22nd day since hospitalization. Histology confirmed the presence of organized thrombi. Pericardiocentesis of 250 ml slightly green fluid was performed at the same time and sent for laboratory testing, cultivation was negative. Therapy with Ibuprofen and Colchicine was started with good results.
Video 4 ICE navigated biopsy of mass in right ventricle
Social investigation of this young prisoner showed a problematic situation (debts, execution and severe non-compliance), therefore the patient was not indicated for surgical decortication of the ventricles. She was started on medical therapy for chronic heart failure and anticoagulation and transferred for further investigation of possible ANCA+ vasculitis to the Rheumatology centre in a different institution.
Endomyocardial fibrosis (EMF) is an idiopathic disorder that is characterized by fibrosis of the apical endocardium of the right ventricle (RV) and/or left ventricle (LV). This leads to the development of restrictive cardiomyopathy and diastolic dysfunction with increased filling pressures. It is also typically associated with mitral or tricuspid regurgitation, because the chordae tendineae are often involved. This leads to atrial enlargement, thrombus formation over the initial lesions and congestive heart failure.
EMF is mostly endemic to the tropical and subtropical regions of the world, but sporadic forms may be found in Europe. The European form is associated with a mean age of 30–50 years and a male-to-female ratio of 1:2.
What is the cause of EMF?
EMF has an idiopathic pathophysiology, but is often associated with an excessive blood eosinophilia, which may result from a parasite infection (helminths, protozoa – malaria, toxoplasmosis), some autoimmune diseases (vasculitis, rheumatoid arthritis, post-transplant rejection) or eosinophilic leukaemia. The significance of eosinophilia is still controversial, but it is believed that the eosinophils are mechanically destroyed in the ventricles, which releases fibroblast-stimulating factors that cause the typical lesions in the inflow tract and apex.
Nevertheless, despite the similarities between Loeffler’s endocarditis and EMF, serum and myocardial eosinophilia have not been consistently demonstrated in EMF.
Other causes include infectious origin, environmental exposure, immunologic or genetic.
The development of EMF may be divided into 3 stages:
Echocardiography is the main imaging method for EMF diagnosis.
There is a triad of key features of endomyocardial fibrosis:
Cardiac magnetic resonance (CMR) - imaging with contrast demonstrates myocardial fibrosis
What can usually be found on ECG?
Management of endomyocardial fibrosis
Medical care currently remains very challenging as 1/3 to 1/2 of patients with advanced disease die within 2 years from diagnosis. Clinical course may be stable over years, but when restriction becomes clinically apparent, a downhill course begins with a decrease in quality of life. For patients with severe symptoms, consider surgical therapy because the prognosis for these patients with continued medical therapy alone is dismal.
The prognosis for EMF is poor as the incidence of sudden cardiac death due to arrhythmia, thromboembolic disease, and end-stage heart failure is very high
What can you include in differential diagnosis?
Authors: Lucie Mayerová, Michal Pazderník