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We present a case of primary endocardial fibroelastosis (EFE) which had been diagnosed in a 16-year-old girl who died suddenly and unexpectedly. This exceptional cause of death in adolescence led to a short literature review comparing our findings with previous medicolegal reports.
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A retrospective study was made of 52 patients (16 men, 36 women) with endocardial fibroelastosis diagnosed by strict clinical criteria and confirmed histologically in 18 (35%). Clinical and hemodynamic manifestations at presentation were reviewed from the clinical record. The follow-up period averaged 47 months (range 1 day to 228 months). Actuarial survival rates were 93% at 6 months, 83% at 1 year and 77% at 4 years. Clinical and hemodynamic manifestation included onset at less than 1 year of age (89%), respiratory distress (71%), cardiomegaly on chest roentgenogram (99%), left ventricular hypertrophy with ST-T-wave changes on the electrocardiogram (97%) and reduced contractility with dilatation of the left ventricle (100%). Prognostic risk factors were evaluated comparing 13 patients who died (group 1) with 16 patients who survived greater than 4 years (group 2). Only cardiac index (2.8 +/- 0.8 vs 3.5 +/- 0.5 liter/min/m2) and ejection fraction (18 +/- 12 vs 33 +/- 21%) measured at catheterization were significantly reduced in group 1 compared with group 2 (p less than 0.005 and p less than 0.01, respectively). Careful observation and appropriate management are recommended in all patients, although low ejection fraction and cardiac output at presentation are predictive of poor outcome and support other therapeutic alternatives.
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Left ventricular endocardial fibroelastosis developed in two patients whose mitral valves were replaced by tilting disk prostheses. The distribution of the lesions was compatible with their being caused by a hemodynamic effect of the prosthetic valves. The fibroelastosis appeared to have been of no clinical importance in one patient, but in the other, the endocardial thickening was greater and was probably a factor in causing cardiac decompensation.
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Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.
Diffuse interstitial mononuclear cell myocarditis of unidentified but probable viral etiology in patients with endocardial fibroelastosis (EFE) suggested a possible pathogenetic relationship. Clinical and autopsy findings were reviewed in 64 children with one or both conditions. Five had myocarditis only and 18 had idiopathic EFE only, but in 41, both lesions coexisted and demonstrated the progression of myocarditis into idiopathic EFE. Patients with myocarditis but without EFE all died within 2 weeks of the onset of symptoms. With longer survival, myocarditis subsided but EFE and myocardial hypertrophy increased progressively. Marked EFE and hypertrophy, with trivial or no residual myocarditis, occurred with survival times over 4 months. Mitral insufficiency due to ventricular dilatation and a papillary muscle displacement commonly developed with prolonged survival. The results of the study are consistent with the hypothesis that in some patients interstitial myocarditis may produce left ventricular dilatation of a duration sufficient for the development of myocardial hypertrophy and EFE. These nonspecific responses to increased expenditure of myocardial energy and increased mural tension produce ventricular compensation, but result in a marked loss of cardiac reserve. Relative mitral insufficiency perpetuates the cycle of congestive failure and diminishing cardiac reserve by causing further ventricular dilatation with consequent myocardial hypertrophy.
We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of the 2 major malformations and parental consanguinity suggests the possibility of a new autosomal recessive MCA syndrome.
In all cases of primary endocardial fibroelastosis investigated diffuse degenerative changes in the ganglion cells were detected. Thickened endocardium was formed by the proliferation of mesenchymal cells located under the endothelial endocardium and of the mesenchyme surrounding the necrobiotic muscle cells. In some cases ;axial' vacuolar degeneration, necrobiosis, and necrosis of muscle cells, interstitial oedema, and dilatation of capillaries and lymphatic spaces were found in the whole myocardium. In all cases these changes were in the subendocardial layer.In the cases discussed morphological changes in the endocardium were seen to be secondary to lesions in myocardial and possibly in neural structures.
7 infants with the clinical picture and the typical hemodynamic and angiocardiographic findings of endocardial fibroelastosis were studied echocardiographically. The echocardiograms were digitized and analyzed by the method of Gibson and Brown and compared with those of 8 normal infants. The echoes of EFE-patients showed a nearly twice as large LV-diameter. The mitral valve was displaced posteriorly, the septal motion in 4 of them abnormal. The shortening fraction was significantly reduced, the LPEP/LVET quotient increased. The comparison of LPEP with the Q to mitral valve closing interval revealed a considerable prolongation of isovolumetric contraction time. The result of computer analysis was a decrease of peak Vcf and maximum lengthening rate. The echocardiographic pattern is typical but not pathognomonic, it gives no prognostic information.
This is the first report in the forensic literature of a combination of fatal digoxin poisoning with endocardial fibroelastosis (EFE). Typical morphological features of EFE as the cause of clinically diagnosed cardiomyopathy were present in the autopsy of a 3-year-old girl, including cardiac hypertrophy and marked thickening of the left-sided endocardium, consisting of numerous elastic and collagenic fibres. After exclusion of cardiac and cerebral causes of death, accidental digoxin intoxication was proved. Postmortem toxicological analyses by fluorescence polarization immunoassay (FPIA) disclosed digoxin levels of 71 micrograms/kg (femoral vein blood), 77 micrograms/kg (cardiac blood), 255 and 221 micrograms/kg (cardiac muscle of the right and left chamber), 163 micrograms/kg (psoas muscle), 91 micrograms/kg (lung), 222 micrograms/kg (liver) and 520 micrograms/kg (kidney). The results are compared with the antemortem digoxin concentration of 39 ng/ml serum. The case is discussed from its unusual morphological and toxicological aspects, with special consideration of possible medical malpractice.
Pathologic and clinical findings in 20 infants with Endocardial Fibroelastosis are reported. Ten cases were considered as secondary Fibroelastosis due to left heart structural anomalies. Purpose was to find some clinical criteria to establish differential diagnosis between primary and secondary forms. QRS voltages in electrocardiogram were higher in primary forms and QRS axis in the frontal plane had more rightward deviation in secondary ones.
Surgical treatment of mitral insufficiency and aortic valve stenosis associated with endocardial fibroelastosis has not been well documented. We treated 2 infants with this complex lesion: in one case it was possible to repair the mitral valve. The long-term results are quite encouraging and emphasize that this lesion should be treated early to avoid the risk of compromising the left ventricular function, although the chance of a valve replacement in an infant can be high.