endocardial fibroelastosis ( efe ) is a disorder of fetuses and infants of unclear etiology that is characterized by deposition of collagen and elastin , and that leads to ventricular hypertrophy and diffuse endocardial thickening.1 ) however , a recent study has shown that even in adult heart recipients , efe is a relatively frequent finding in histological samples of explanted hearts.2 ) the basic feature of the disease is the formation of fibrous tissue on the endocardium in the inflow tract of the right or left ventricle or both , leading to partial obliteration of the ventricle with decreased ventricular distensibility and impaired diastolic filling.3 ) in korea there were no reports of a case of efe in adults . therefore , we now report the case of a 57-year - old woman with efe confirmed by histological examination of her explanted heart after heart transplantation .
she had been diagnosed with restrictive cardiomyopathy secondary to endomyocardial fibrosis when she was 38 years old .
afterward , she had remained in good functional status until she was 53-years - old . when the patient was admitted to our hospital , she complained of dyspnea on exertion { new york heart association ( nyha ) functional class 3 } and abdominal distension over the last several months .
the initial blood pressure was 112/56 mmhg , the heart rate 67/minute , the respiratory rate 18/minute , and temperature 35.9. on physical examination , increased jugular venous pressure with kussmaul 's sign and decreased breathing sounds in both lower lung fields were observed .
in addition , there were a shifting dullness on her distended abdomen and peritibial pitting edema ( grade 3 ) .
laboratory findings showed anemia ( hb 7.9 g / dl ) , hypoalbuminemia ( 2.0 g / dl ) , and elevated n - terminal pro - b - type natriuretic peptide level ( 359.0 pg / ml ) .
the electrocardiogram showed no specific abnormality . on the chest x - ray , bilateral pleural effusion
the echocardiogram showed severe diastolic dysfunction ( grade 4 ) with normal ventricular size and normal systolic function .
coronary angiography was performed and showed normal coronary arteries . on cardiac catheterization , mild pulmonary hypertension ( pulmonary arterial pressure 40/13 mmhg ) , diastolic equilibrium of four chambers , and dip and plateau configuration of ventricular pressure were observed . on cardiac mri ,
a contrast - enhanced delayed myocardial image demonstrated endocardial hyperenhancement in diffuse area of both ventricles ( fig .
finally , the patient received a heart transplantation 5 months later because of progressive heart failure .
histological examination showed irregularly thickened endocardium with fibrosis and elastosis in the left ventricle , compatible with the diagnosis of efe ( fig .
her one - year follow - up echocardiography and cardiac biopsy showed normal cardiac function and no allograft rejection .
efe usually occurs in infants and young children who present with signs of congestive heart failure .
efe is an adverse prognostic factor for children and adolescents with dilated cardiomyopathy.4 ) there have been many reports about efe presenting in fetuses , infants and children including a korean report , in which efe was proved by autopsy after sudden unexpected death of the infant.5 - 7 ) there was a korean paper about idiopathic restrictive cardiomyopathy in children , but the pathologic diagnosis was not investigated.8 ) several cases with efe in young adults have also been reported in other countries.4)9 ) interestingly , however , our patient showed an unusually benign course despite extensive fibroelastosis and remained in good functional status until her 50s .
. it may be secondary to congenital heart disease , mainly left ventricle obstructive malformations and hypoplastic left ventricle . as for primary efe , different pathogenetic mechanisms have been suggested , such as genetic factors , viral infections , carnitine deficiency , or transplacental crossing of maternal antibodies ( anti - ro , anti - la ) .
it has also been suggested to be a nonspecific response to chronic myocardial dysfunction.4 ) in our case , we could not find any etiology for the efe .
the diagnosis of efe is difficult to establish because clinical symptoms , electrocardiographic findings and even echocardiographic findings are nonspecific.10 ) there have been papers that concluded that cardiac mri and ct could be useful in establishing the presence of efe.10 - 12 ) stranzinger et al.10 ) reported that , on mri , efe manifested at the endocardial surface as a rim of hypointense signal in the perfusion sequences and as a rim of hyperintense signal in the myocardial delayed - enhancement sequences . on mri for our case , we also noticed a hyperintense signal along the endocardium in the contrast - enhanced delayed myocardial image .
the mri image was obtained using a balanced turbofield echo technique after injection of gadobutrol .
as the gross specimens of other reported cases showed,4)13 ) we could see the typical efe finding referred to as a whitish fibrous tissue lining the endocardium.14 ) in summary , we report , for the first time in korea , the case of a 57-year - old woman with primary efe presenting as heart failure .
we observed very similar findings in her mri image and in the examination of her explanted heart with previous cases of efe reported in other countries .
 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 . 
Introduction
Case
Discussion