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A child with infantile polycystic disease who developed cardiac failure from endocardial fibroelastosis is described. Endocardial fibroelastosis has been reported in adult type polycystic disease in childhood. Endocardial fibroelastosis should be suspected in a child with polycystic disease who develops unexplained cardiac failure.
Out of 2398 autopsies of newborns and infants performed between 1976 and 1985, thirty two cases of endocardial fibroelastosis were found, i.e. 10.6% of the congenital heart diseases in this age group. Endocardial fibroelastosis was most frequent (44%) in infants aged between 3 and 6 months. Seventeen cases of the disease were seen in male infants and 15 cases in female infants. Twenty cases of the endocardial fibroelastosis (62.5%) were of isolated character (primary) whereas 12 cases (37.5%) were of the secondary character associated with other heart abnormalities. Nine cases (about 28%) coexisted with congenital abnormalities of joint and bone system and respiratory tract. A morphologic analysis of the endocardial fibroelastosis with particular reference to its etiopathogenesis suggest its congenital origin or (and) an effect of infection on myocardium. It was also suggested that endocardial fibroelastosis may be a symptom of collagenic disease. About 70% of autopsied infants were hospitalized over 3 days what meant that the course of the disease was severe. Endocardial fibroelastosis was diagnosed clinically only in 6 cases (18.75%).
Two cases of fetal endocardial fibroelastosis are reported in the larger of growth-discordant monozygotic twins. The growth discordance in these two cases is regarded as a manifestation of twin-twin transfusion syndrome, but other causes are considered and the difficulties posed by the observed placental vascular anatomy are discussed. The literature on endocardial fibroelastosis in multiple pregnancy is briefly reviewed, and the relationship of endocardial fibroelastosis to the cardiovascular compromise seen in twin-twin transfusion syndrome is considered.
Endocardial fibroelastosis is characterized by an abnormal thickening of the endocardium of one or both ventricles; the disorder may occur with or without other cardiac anomalies. A diagnosis of endocardial fibroelastosis in utero using fetal echocardiography may be made on the basis of increased echodensity of the endocardium and poor contractility of the ventricle. We describe a case of very early diagnosis of fibroelastosis and aortic valve stenosis observed in utero at 14 weeks' gestation by transvaginal echocardiography.
The concurrence of endocardial fibroelastosis and Niemann-Pick disease is described. This appears to be the first described case of endocardial fibroelastosis in association with a lipid storage disorder.
Endocardial fibroelastosis (EFE) in a mother and daughter are reported. This entity has a primary and secondary form. In this case, the 23-year-old mother died 11 months after delivery with findings of EFE. At age 3(1/2) years, the daughter was admitted in congestive heart failure and did not respond to medical management. The autopsy findings revealed EFE. Endocardial fibroelastosis in both mother and daughter is a very rare finding.
A case of mitral stenosis following mitral valve replacement in a patient with endocardial fibroelastosis is reported. A 14-year-old boy presented with cardiac failure. He had been diagnosed as having endocardial fibroelastosis at the age of 7 months and had undergone resection of endocardial fibrous tissue in the left ventricle at that time. Five years later his mitral valve was resected owing to mitral stenosis, with Bjork-Shiley valve replacement. Cross-sectional echocardiography on this admission showed restrictive left ventricular inflow due to a thickened immobile prosthetic valve with severely dyskinetic left ventricle (ejection fraction 8%). The electrocardiogram showed atrioventricular reentry tachycardia. Despite direct current cardioversion and continual amiodarone infusion he suffered a cardiac arrest and died 12 days after admission. Postmortem examination showed left ventricular endocardial fibroelastosis with severe inflow obstruction due to the formation of a complete fibrous ring of pannus/fibrosis around the prosthetic margin on the ventricular aspect of the left ventricle. This complication has not previously been described in children after mitral valve replacement.
Endocardial fibroelastosis in neonates with hypoplasia of the left ventricle is usually associated with severe aortic stenosis or atresia. In this study three hearts were examined, in which severe hypoplasia of the left ventricular cavity with myocardial hypertrophy and endocardial fibroelastosis were associated with small but non-stenotic subaortic outflow tracts and aortic valves. These features were contrasted with those of neonatal left heart hypoplasia in aortic stenosis and atresia. The index cases were examples of the very rare contracted form of endocardial fibroelastosis.
The presence and distribution of human atrial natriuretic polypeptide (ANP) were investigated immunohistochemically in the ventricles of hearts of 14 cases with endocardial fibroelastosis and 15 cases with noncardiac disease in children. Paraffin sections of autopsied hearts with endocardial fibroelastosis were stained with polyclonal antibodies against human alpha-ANP. Immunoreactive myocytes were clearly demonstrated in the ventricles of 10 hearts with endocardial fibroelastosis. The distribution of ANP-positive cells was most frequent in the inner one-third of the left ventricle. No ANP immunoreactivity was detected in any heart in cases with noncardiac disease. The left ventricular volume index of hearts with ANP-positive cells was larger than that with ANP-negative cells. The mean diameter of ANP-positive myocytes was greater than that of ANP-negative myocytes. These results suggest that ANP expression in ventricular myocytes is related to severe dilatation of the ventricular cavity and to development of myocardial hypertrophy in endocardial fibroelastosis.
Pulmonary hypertension due to endocardial fibroelastosis is usually diagnosed during infancy and childhood and is almost uniformly lethal when severe. Since females with this disorder rarely reach reproductive age, no cases of successful pregnancy in the presence of this severe cardiopulmonary disease have been reported. A 23-year-old Caucasian primigravida with a history of congenital endocardial fibroelastosis and severe pulmonary hypertension presented at 20 weeks' gestation. Following cardiac catheterization, the pregnancy was managed with bed rest, oral theophylline and digoxin, and low-flow oxygen therapy. After spontaneous onset of labor at 35 weeks, invasive hemodynamic monitoring and epidural anesthesia were initiated. Worsening of maternal pulmonary artery pressures postpartum was relieved by intravenous nitroglycerin infusion. Recent advances in medical care have resulted in more women with endocardial fibroelastosis reaching reproductive age. Successful pregnancy outcome is possible using established techniques of modern obstetric care.
A 10-year-old boy with congestive heart failure died in five months in spite of comprehensive medical treatment. Autopsy showed patchy areas of endocardial fibroelastosis of the left ventricle. The sister of this patient had followed a similar course at 13 years of age with death within six months of the onset of congestive failure. Her postmortem examination also showed endocardial fibroelastosis. The clinical presentation of familial endocardial fibroelastosis in the preteen and teenage years is a rare event. Probably the endocardial fibroelastosis was secondary to a familial nonobstructive cardiomyopathy.
BACKGROUND: Critical aortic stenosis with severe concentric left ventricular hypertrophy and endocardial fibroelastosis has a substantial mortality rate when the conventional therapeutic strategy, ie, open surgical or balloon valvuloplasty, is applied. During the last decade, univentricular repair (Norwood operation) and heart transplantation have evolved as the only viable therapeutic options. An alternative in patients with borderline hypoplastic left heart syndrome consists of performance of a Ross-Konno operation with surgical enlargement of the left ventricular cavity, a procedure that has the advantage of achieving a two-ventricle repair. METHODS: Two neonates and 2 young infants with critical aortic stenosis, concentric left ventricular hypertrophy, and severe endocardial fibroelastosis, with echocardiographically documented antegrade flow in the ascending aorta, underwent a Ross-Konno operation combined with extensive endocardial and myocardial resection of the left ventricular septum and free wall. The incision in the ventricular septum was closed with a wide cuff of infundibular muscle that was harvested in continuity with the pulmonary autograft. RESULTS: In all 4 patients, the operation resulted in normal aortic valve function, marked reductions of width of the left ventricular septum (median, 6.5 mm, versus 11 mm preoperatively) and the left ventricular posterior free wall (median, 8.5 mm, versus 15.5 mm preoperatively), and enlargement of the left ventricular end-diastolic volume (median, 12.5 cm3, versus 6.5 cm3 preoperatively). Three patients had an uneventful recovery, with gradual improvement of left ventricular diastolic and systolic function during the first postoperative week; 1 neonate with associated mitral regurgitation died of left ventricular failure. CONCLUSIONS: The Ross-Konno procedure with resection of endocardial fibroelastosis may be a valuable adjunct for achieving a two-ventricle repair in borderline hypoplastic left heart syndrome. The operation results in enlargement of the left ventricular stroke volume and improvement of left ventricular diastolic function; in addition, resection of endocardial fibroelastosis relieves the mechanical impairment of myocardial function and therefore may promote the potential for left ventricular growth.
We studied by serial cardiac catheterisation eight patients with the dilated form of primary endocardial fibroelastosis in whom congestive heart failure disappeared with treatment. All remained without symptoms for at least three years before recatheterization. Four patients showed regression of the abnormal electrocardiographic findings, three showed persistence, and one showed progression of electrocardiographic left ventricular overload pattern. On first cardiac catheterisation all patients had a dilated left ventricle with a mean ejection fraction of 0.36. In six of the patients repeat cardiac catheterisation showed left ventricular dilatation with a diminished ejection fraction (mean 0.32). Left ventricular end-diastole pressure was raised (12 to 28 mmHg, mean 19 mmHg). In this group were included the three patients with persistence and one with progression of the abnormal electrocardiographic findings, and two of the four patients with regression of these findings. The highest left ventricular end-diastolic pressure was found in a patient in whom the abnormal electrocardiographic findings almost reverted to normal. In the two remaining patients with reversion of the electrocardiographic abnormalities repeat cardiac catheterisation showed nothing abnormal. Our findings indicate that "cure" in primary endocardial fibroelastosis is incomplete. These findings may be the cause of sudden death or late clinical deterioration in some reported patients with "cured" primary endocardial fibroelastosis. The electrocardiogram is of little value in assessing these processes.
In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.
OBJECTIVE: To examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. DESIGN: A retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. SETTING: Tertiary referral centre for fetal echocardiography. PATIENTS: Thirty fetuses showing a characteristic echocardiographic picture of left ventricular dysfunction. MAIN OUTCOME MEASURES: The relation between the prenatal echocardiographic features and the postnatal and necropsy findings. RESULTS: At presentation the size of the left ventricular cavity was normal or enlarged in all cases. The measurements of the orifice of the aortic root and mitral valve were either normal or small for the gestational age. The echocardiographic diagnosis made at presentation was critical aortic stenosis in all cases. At necropsy or postnatal examination the aortic valve was dysplastic and stenotic in 15 cases and the left ventricle had become hypoplastic in one of these. Aortic atresia was present in seven patients, three of whom had a hypoplastic left ventricle. In six patients the aortic valve was bicuspid although not obstructive. One of these patients had hypoplasia of the aortic arch and one had a hypoplastic left ventricle but in the remaining four patients endocardial fibroelastosis of the left ventricle was the only abnormality found. No follow up information was available in two. Of 26 patients for whom there was postmortem information, 24 had evidence of some degree of endocardial fibroelastosis of the left ventricle. Sequential observations showed that five cases developed into the hypoplastic left heart syndrome. CONCLUSIONS: This type of left ventricular dysfunction in the fetus is the result of an overlap of diseases, including primary left ventricular endocardial fibroelastosis, critical aortic stenosis, and the hypoplastic left heart syndrome.
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The endocardial fibroelastosis (EFE) is the most frequent cardiomyopathy. This disease is characterised by endocardial hyperplasia due to proliferation of elastic and collagenous fibres. There are primary and secondary forms. Within the primary form, the infantile form is the most frequent and of greatest importance to the pediatrician. This form is more a syndrom than a distinct disease. It is a reaction of the endocard due to several noxes. Lately a possible viral etiology is being discussed e.g. Parotitis, Coxsackie or other viruses. Clinical criteria for diagnosis are: cardiomegaly, left ventricular hypertrophy seen in 97% in the ECG, the absence of a murmur (or a soft apical mumur) absence of cyanosis and absence of systemic disease. Differential diagnosis is mainly between fibroplastic parietal endocarditis (FPE), cardiovascular collagenosis (CC) and endomyocard fibrosis (EMF). In FPE thrombosis is frequent and typically there is eosinophilia. CC is found in South Africa and is characterised by edema and fibrinoid necrosis. MEF is present mainly in Uganda, Nigeria and South India, characterised by endocardial fibrosis, valve involvement and eosinophilia. The obstructive hypertrophic cardiomyopathy is characterised by a pronounced cardiomegaly, insufficient weight gain as well as dyspnea and cyanosis. Catheterization shows a gradient across one or both of the outflow tracts due to hypertrophic subaortic or subpulmonic stenosis. Therapy of EFE consists in treating the cardiac decompensation and according to the severity of the disease, in steroids.
We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed alpha-L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed alpha-L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants. We propose that the ventricular mural accumulation of mucopolysaccharides induced extensive proliferation of elastic or collagen fibers within the endocardium. Cardiac failure may precede recognition of clinical and roentgenographic features of Hurler syndrome. Our findings and a literature review suggest that certain heritable storage disorders, including mucopolysaccharidosis I, should be considered when infants have clinical electrocardiographic and echocardiographic findings consistent with endocardial fibroelastosis or have autopsy-documented endocardial fibroelastosis.