Endocardial fibroelastosis

Autopsy Findings of Endocardial Fibroelastosis in an Adult

“…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.…”

“…Infants in this age group may present with unexplained acute heart failure and cardiogenic shock, which may lead to sudden infant death. 5,6 Similarly, EFE in adults may have presenting symptoms such as cyanosis and progressive dyspnea, indicating congestive heart failure of unknown cause. 6 Sudden death without any apparent clinical symptoms also occurs in adult.…”

“…5,6 Similarly, EFE in adults may have presenting symptoms such as cyanosis and progressive dyspnea, indicating congestive heart failure of unknown cause. 6 Sudden death without any apparent clinical symptoms also occurs in adult. 8 Our case is an example of EFE diagnosed in adulthood, discovered during an autopsy examination.…”