Endocardial Fibroelastosis in a 57-Year-Old Transplant Recipient

Abstract

Endocardial fibroelastosis (EFE) is characterized by deposition of collagen and elastin leading to ventricular hypertrophy and diffuse endocardial thickening. Here we report (for the first time in Korea) the case of a EFE presenting with heart failure. The patient was a 57-year-old woman who had complained of dyspnea on exertion {New York Heart Association (NYHA) functional class 3} and abdominal distension at the time of hospital admission. Echocardiography showed severe diastolic dysfunction with normal systolic function. On MRI, the contrast-enhanced delayed myocardial image demonstrated hyperenhancement in the endocardium. Owing to progressive heart failure, the patient was transplanted. Histological examination of the explanted heart showed irregularly thickened endocardium with fibrosis and elastosis in the both ventricles, compatible with the diagnosis of EFE.

Autopsy Findings of Endocardial Fibroelastosis in an Adult

“…While cases in infancy and childhood tend to present with rapidly progressive clinical course, cases diagnosed in adulthood may have relatively mild symptoms or progress at a slower rate in comparison. 2,10 There were no overt structural cardiac anomalies present in our case to ascribe as a potential cause for secondary EFE. The fact that the deceased was an immigrant in the country, a good medical history and clinical investigations record were impossible to be obtained.…”

“…EFE may be primary (idiopathic) or secondary to an existing cardiac anomaly causing severe left ventricular outflow tract obstruction such as aortic stenosis or atresia, mitral incompetence, coarctation of aorta and patent ductus arteriosus. 2,6 Primary EFE is often diagnosed in infancy or childhood, with reports illustrating potential associations with foetal hydrops, inherited conditions such as X-linked recessive cardiomyopathy and mutations involving the MYBPC3 gene. 1,5,7 Only rare cases present in adulthood.…”

“…1,5,7 Only rare cases present in adulthood. 2,8,9 Until now, the diagnosis of EFE is difficult to be established due to its non-specific presenting clinical symptoms and echocardiographic findings. 2 As this disease is more commonly seen in infants, the typical age of diagnosis is 2 to 12 months.…”

“…2,8,9 Until now, the diagnosis of EFE is difficult to be established due to its non-specific presenting clinical symptoms and echocardiographic findings. 2 As this disease is more commonly seen in infants, the typical age of diagnosis is 2 to 12 months. Infants in this age group may present with unexplained acute heart failure and cardiogenic shock, which may lead to sudden infant death.…”

“…Endocardial fibroelastosis (EFE) is a rare heart disease which usually presents with diffuse endocardial thickening due to deposition of collagen and elastin, most commonly affecting the left ventricle. 1,2 EFE can be categorized into primary and secondary. Primary EFE refers to an absence of any causative factor, therefore it is hypothesized to be caused by genetic factors, viral infections or transplacental crossing of maternal antibodies.…”