Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy.

Endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. We describe the case of a 4-year-old girl who presented with sustained incessant ventricular tachycardia, a severely dilated left ventricle, and cardiac dysfunction refractory to all medical management and even to ablation; she eventually underwent cardiac transplantation. The diagnosis was made only after histopathologic examination of the explanted heart showed clear evidence of endocardial fibroelastosis. Through this report, we would like to highlight the fact that primary endocardial fibroelastosis can masquerade as idiopathic dilated cardiomyopathy and that associated frequent premature ventricular contractions and nonsustained ventricular tachycardia require close monitoring. Progressive ventricular dilation and ventricular dysfunction can convey a poor prognosis. Sustained recalcitrant ventricular tachycardia in these patients can be a life-threatening event that requires emergent mechanical support and heart transplantation.

[Advance in research on endocardial fiborelastosis].

Endocardial fiborelastosis (EFE) is a common infantile myocardiosis. The pathogenesis of EFE may be associated with viral infection, genetic factors, immune factors and endocardial dysplasia. The fundamental pathological changes of EFE include hyperplasia of endocardium elastic fibers and collagen fibers. Acute EFE is a frequent type. Clinical manifestations of EFE are non-specific and children with EFE mainly present with congestive heart failure. Echocardiography is very helpful to the diagnosis of EFE. It is necessary to differentiate EFE from pneumonia complicated by acute congestive heart failure, viral myocarditis and anomalous origin of the left coronary artery. Treatment is meant to control symptoms of congestive heart failure. Patients who respond well to digitalis and have good medication compliance have a favorable prognosis.

Ross-Konno and endocardial fibroelastosis resection after hybrid stage I palliation in infancy: successful staged left-ventricular rehabilitation and conversion to biventricular circulation after fetal diagnosis of aortic stenosis.

We report a patient who presented during fetal life with severe aortic stenosis, left-ventricular dysfunction, and endocardial fibroelastosis (evolving hypoplastic left heart syndrome). Management involved in utero and postnatal balloon aortic valvuloplasty for partial relief of obstruction and early postnatal hybrid stage I palliation until recovery of left-ventricular systolic function had occurred. The infant subsequently had successful conversion to a biventricular circulation by combining resection of endocardial fibroelastosis with single-stage Ross-Konno, aortic arch reconstruction, hybrid takedown, and pulmonary artery reconstruction.

[A long-term follow-up study on the clinical treatment of 75 cases with primary endocardial fibroelastosis].

OBJECTIVE: To summarize and analyze the effects of treatment and prognosis of infants with endocardial fibroelastosis (EFE) in different states of the illness undergone relevant therapies, and to understand the roles of different treatments for improving the prognosis of the disease. METHODS: Data of 75 cases with EFE admitted into Anzhen Hospital Affiliated to Capital Medical University from August 1984 to June 2006 were analyzed retrospectively. RESULTS: (1) Of the 75 cases with EFE (40 males and 35 females), with the onset age ranged from 20-days to two years and eight months, 69 cases were treated normally and followed up in the Outpatient Department of the Hospital after discharge, the follow-up rate was 92%, with the follow-up span from six months to 23 years (5.7 years in average). During the follow-up, six cases (8.7%) died. (2) The total curative rate of EFE patients was 46.4% (32/69), while the improvement rate was 40.6% (28/69), the total rate of the cure and improvement was 87%. (3) The average value of ejection fraction (EF) of left ventricle of all the patients returned to normal two years after treatment (EF value was 55.86 ± 2.85), the percentage of patients with normal left ventricle EF at 1 year, 3 years, 5 years and 10 years after treatment was 42.6% (26/61), 64.4% (29/45), 70.7% (29/41) and 84.6% (22/26), respectively. The average value of cardiothoracic (C/T) ratio became normal three years after treatment through X ray examination (0.50 ± 0.01), however the average value of the LVDD had not been returned to normal 3 years after treatment. At 1 year, 3 years, 5 years and 10 years after treatment, the proportion of patients with normal LVDD was 0% (0/61), 13.3% (6/45), 53.7% (22/41) and 84.6% (22/26), respectively. (4) The average value of EF became normal one year after treatment in the glucocorticoid group (EF value 58.44 ± 5.10) in 37 cases scored < 22 at the first visit, while the average value of C/T normalized two years after treatment (0.50 ± 0.00); The average value of EF became normal three years after treatment in the glucocorticoid plus cyclophosphamide group (EF 57.33 ± 3.43) in 29 cases scored < 22 at the first visit, however the average value of the C/T and the LVDD did not return to normal 3 years after treatment. (5) Use of IVIG reduced the percentage of patients who received cyclophos-phamide. (6) The recovery of intimal thickness was slow in EFE patients, the span was four years on the average (1 - 8 years), the percentage of patients whose endocardium became normal 1 year, 3 years, 5 years and 10 years after treatment was 9.85% (6/61), 22.2% (10/45), 51.2% (21/41), 100% (29/29). CONCLUSION: The long-term continuous normal treatment of patients with EFE showed good therapeutic effects. For severe and refractory cases, immunotherapy must be strengthened and maintained for longer time. For those who clinically recovered, the quantity of activity should be restricted after the treatment is discontinued, and the re-examination should be done timely for further management.

Papillary fibroelastomas: innocent bystanders or ignored culprits?

Cardiac papillary fibroelastomas (PFEs) are the most common tumors of the cardiac valves and the third most common cardiac tumor. They are usually detected accidentally on echocardiography, but have the potential to manifest with catastrophic embolic phenomena, resulting in stroke and myocardial infarction. Echocardiography is currently the preferred diagnostic modality, while magnetic resonance imaging and computed tomography are helpful in the differential diagnosis of cardiac tumors. The management of PFEs is empiric, as no large randomized trials have been conducted to support specific treatment guidelines. The treatment of choice for PFEs with high-risk features for peripheral embolization is surgical resection. Anticoagulation is recommended in patients who are poor surgical candidates or who refuse surgery, although its duration and intensity are debatable. This review summarizes current knowledge on the epidemiology, pathology, pathophysiology, clinical manifestations, diagnosis, and treatment of PFEs. It also highlights the need for large randomized clinical trials that would delineate more specific guidelines for managing PFEs with anticoagulation.

[Fetal supraventricular tachycardia associated with anasarca: poor prognosis despite treatment. Apropos of two cases]. / Tachycardies supraventriculaires foetales avec anasarque: mauvais pronostic malgré le traitement. A propos de deux cas.

Two cases of foetal supraventricular tachycardia with hydrops with fatal outcomes illustrate the poor general prognosis of this condition. The absence of therapeutic consensus, of large series in the existing literature, does not prevent logical and reasonable management based on rhythmological, pharmacological and prognostic criteria. A combined approach associating antiarrhythmic therapy by the transplacental and intrafunicular approaches seems acceptable now that funicular puncture can be undertaken easily, and certain antiarrhythmic molecules suggest encouraging results. It is important to try to assess the haemodynamic tolerance by foetal Doppler echocardiography because the foetal prognosis depends on ischaemic cerebral lesions induced by anoxia, difficult to diagnose in utero: when observed, aggressive and occasionally dangerous therapies to foetus and mother may be justified in these extreme situations of foetoplacental hydrops.

Endocardial fibroelastosis: an unusual cause of pulmonary hypertension in pregnancy.

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.

[Natural history and prognostic factors in primary endocardial fibroelastosis in infants]. / Histoire naturelle et facteurs pronostiques de la fibro-élastose primitive de l'endocarde du nourrisson.

Over a 33 year period, 127 patients under 2 years of age with dilated cardiomyopathies and appearances compatible with the diagnosis of primary endocardial fibroelastosis were admitted to the paediatric cardiac unit of the CHRU of Lille. The average follow-up was 8.9 +/- 6.7 years. Ninety-four children (74%) were cured, 16 (13%) had persistent cardiomegaly and/or left ventricular dysfunction on echocardiographic examination, and only 17 (13%) patients died (10 in the year following their initial hospital admission including 5 in the first week). The outcome of patients was not related to age at diagnosis, sex, cardiothoracic index, initial shortening fraction of the left ventricle or the period at which the patients were seen for the first time. On the other hand, the presence of a family history of cardiomyopathy was associated with a significantly worse prognosis. A recurrence of symptoms was the factor most closely correlated with a bad prognosis: 12 of the 19 patients (63%) with this evolution died, and 4 others (21%) had persistent myocardial dysfunction at the end of the study. These recurrences were often observed after premature withdrawal or after use of ineffective dosages of digitalis. In the authors' experience, dilated cardiomyopathy in neonates with clinical features of primary endocardial fibroelastosis is associated with a relatively high number of cures. Prolonged treatment with high doses of digitalis seems a determining prognostic factor.(ABSTRACT TRUNCATED AT 250 WORDS)

Mitral insufficiency and aortic valve stenosis in infancy associated with endocardial fibroelastosis, surgical treatment and long-term results.

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.