EFE is a rare heart disease characterized by thickening of the endocardium, cardiac enlargement, and myocardial dysfunction. The exact etiology of EFE is unknown and may be related to many factors, including infection [1], congenital developmental malformation [2], autoimmune diseases [3], chromosomal abnormalities and gene mutations [4], and myocardial ischemia and hypoxia [5]. It is one of the causes of heart failure in infants and children [6, 7]. Patients with EFE are prone to endocardial thrombosis, which may be due to enlarged cardiac cavity, systolic dysfunction, and altered endothelium lining [8, 9]. Previous studies have also reported that a thrombus can easily form at the sites of akinetic, dyskinetic, or aneurysmal segments that are potentially at risk for thromboembolism [10]. If the embolus is detached from the mural thrombus, complications arise and other organ changes occur. A series of studies on EFE with thrombosis between 1966 and 2019 were reviewed and its characteristics and outcomes were summarized.
A total of seven patients diagnosed with EFE with thrombosis were identified. A summary of these patients is presented in Table 1 [8, 9, 11–13]. There were one female and six males, with the age at diagnosis ranging from fetal to 68 years old. Thrombus was found in the right ventricle, right auricular appendage, brain, left internal carotid artery, left middle cerebral artery, coronary artery, LV, and right atrium (RA). Patient complications included pulmonary infarct, myocardial infarct, renal infarct, cerebral infarction, aortic valve stenosis, and atrial fibrillation. Diagnosis methods for EFE with thrombosis included echocardiography, cMRI, and autopsy. The prognosis was very poor and treatments were targeted only at symptom relief.
Table 1
Summary of literature on patients presenting with EFE associated with thrombus.
Study
|
Age
|
Sex
|
Diagnose methods
|
Position of thrombus
|
Other symptoms
|
Treatment
|
Outcome
|
Branch et al. (1966) [11]
|
7 y
|
M
|
Autopsy
|
RV
|
Bilateral pulmonary infarcts
|
Medical treatment
|
Died
|
|
16 m
|
M
|
Autopsy
|
LV, RV, RAA
|
Myocardial infarcts; Pulmonary infarcts; Renal infarcts
|
Medical treatment
|
Died
|
|
13 m
|
F
|
Autopsy
|
Brain; LICA; LMCA
|
Cerebral infarction
|
Medical treatment
|
Died
|
Lane et al. (1991) [9]
|
18 m
|
M
|
TTE; Autopsy
|
LAD coronary artery
|
Myocardial infarction
|
Digitalis, furosemide, captopril, spironolactone, and low-
dose aspirin therapy
|
Died
|
Revel et al. (1994) [12]
|
Fetus (24 w, MA)
|
M
|
Fetal echocardiography; Autopsy
|
LV
|
Aortic valve stenosis
|
--
|
Induction of labor
|
Tannouri et al. (1998) [13]
|
Fetus (19 w, MA)
|
M
|
Fetal echocardiography; Autopsy
|
LV
|
--
|
--
|
Induction of labor
|
Ozdemir D et al. (2019) [8]
|
68y
|
M
|
TTE; cMRI
|
RA
|
Atrial fibrillation
|
Warfarin
|
Follow-up
|
Right auricular appendage; LICA: Left internal carotid artery; LMCA: Left middle cerebral artery; LAD coronary artery: Left anterior descending coronary artery; RA: Right atrium; ECG: Electrocardiogram; TTE: Transthoracic echocardiogram; cMRI: cardiac Magnetic resonance imaging; --: No information available. |
Due to its availability, versatility, and low cost, traditional 2D echocardiography is the most convenient imaging method to evaluate mass morphology and mobility. However, the accuracy of 2D echocardiography is limited because mass calculations are based on geometric assumptions. Real-time 3D echocardiography provides a novel echocardiographic method to measure a mass by directly observing the myocardial boundaries of the entire LV. On the basis of 2D echocardiography diagnosis, 3D echocardiography comprehensively shows the location, shape, and narrow base of the mass. 3D echocardiography is also an accurate method for quantifying LV mass. It is in better agreement with the reference value for cardiac magnetic resonance imaging (cMRI), which is considered to be the gold standard for quantifying LV mass [14]. It also has advantages over cMRI due to its availability, rapid image acquisition and processing, and in cases where the patient has no access to the cMRI scanner. Through the combination of 3D echocardiography and CE, the mass can be displayed more accurately and vividly. CE was further utilized to detect the mass’s nature, density, and connection to the LV wall in order to make an accurate clinical diagnosis. CE is widely used in cardiovascular diseases. It can be used to evaluate LV structure and function to improve image quality, reader confidence, and reproducibility [15]. Compared to computed tomography (CT), MRI, positron emission tomography (PET), and PET-CT, CE is a fast, effective, well-tolerated, and inexpensive technology [16]. The thrombus image needs to be distinguished from the tumors. Previous studies have reported that CE has a high diagnostic accuracy in differentiating thrombi from benign or malignant tumors [17]. A mass with no contrast enhancement has been considered as a thrombus, while incomplete or complete mass enhancement might be considered a benign or malignant tumor [17, 18]. The present study found that CE plays a great role in delineating the thrombus outline, clarifying its loose and dense portions, and determining the tightness of the connection between the base and LV wall. Contrast enhancement was observed in the peripheral part of the two active thrombi. There was no contrast enhancement in their central regions. These results suggested that the peripheral structure of the mass might be loose and gap-like, while the central portion is dense. These thrombi were considered to have a very high risk of emboli shedding based on their activity and deformation. The newly formed thrombus is usually highly mobile and protrudes into the ventricular cavity, while the old thrombus often has a smooth surface and is usually relatively static. This case had both fresh active and old thrombi, which might be the source of multiple celiac artery thrombosis. The peripheral contrast-enhanced thrombi were first dissolved with anticoagulant at the time of reexamination, which was consistent with the presumption of fresh loose thrombi.
LV thrombosis has been identified as a marker of adverse cardiovascular events. Embolism from the heart or aorta can cause transient ischemic attack, stroke, or peripheral arterial occlusion, which often leads to clinically significant morbidity and mortality [19]. In the present case, multiple thrombi were also found in the abdominal aorta, common iliac artery, and renal artery. Despite adequate medical measures, the patient eventually died of cardiogenic shock, respiratory failure, sepsis, and severe pneumonia.
Based on the literature review, outcomes of EFE with thrombosis are considered very poor. Due to the rarity of EFE and limited specific evidence, it is recommended that prevention of thromboembolism risk and thrombosis treatment follow general guidelines. It is necessary to be vigilant about the occurrence of thromboembolic events in EFE patients.