Diagnóstico Prenatal de Fibroelastosis Endocardica

Resumen La fibroelastosis endocárdica es una cardiopatía congénita caracterizada por presentar un engrosamiento difuso del endocardio, esto condiciona una miocardiopatía dilatada en la mayoría de los casos o menos frecuente una miocardiopatía restrictiva. Puede ser una patología primaria o secundaria a otras malformaciones cardíacas, sobre todo a una estenosis o atresia de la aorta. Se estima que la incidencia global al nacimiento es de 1 de cada 5 000 y de 4 por cada 100 cardiopatías congénitas. Se presenta el caso clínico de una gestante de 37 años de edad, quien fuera ingresada a las 19.1 semanas de gravidez en el Hospital Obrero N°2 de Cochabamba-Bolivia, por el diagnóstico ecográfico prenatal de cardiopatía fetal estructural, fibroelastosis endocárdica.

Abstract Endocardial fibroelastosis is a congenital heart disease characterized by diffuse thickening of the endocardium, this conditions a dilated cardiomyopathy in most cases or less frequent restrictive cardiomyopathy. It can be a primary pathology or secondary to other cardiac malformations, especially a stenosis or atresia of the aorta. The global incidence at birth is estimated to be 1 in 5 000 and 4 in 100 congenital heart disease. The clinical case of a 37-year-old pregnant woman is presented, who was admitted at 19.1 weeks of pregnancy in Hospital Obrero N ° 2 in Cochabamba-Bolivia, due to the prenatal ultrasound diagnosis of structural fetal heart disease, endocardial fibroelastosis.

Clinical efficacy of glucocorticoid on primary endocardial fibroelastosis in children / 解放军医学杂志

Objective To study the clinical efficacy of glucocorticoid in treatment of primary endocardial fibroelastosis (EFE) in children.Methods Fifty-eight primary EFE cases admitted in the Children's Hospital of Chongqing Medical University from Jan.2006 to Dec.2013 were treated and followed-up for more than 3 years.Based on whether the application of glucocorticoid and the length of time of glucocorticoid therapy,cases were divided into three groups:no glucocorticoid group (n=15),glucocorticoid 0.5-1 year group (n=17) and glucocorticoid 1-2 year group (n=26).The following indicators were followed up and observed:the cardiac function indexes before and after treatment [Modified ROSS score,left ventricular ejection fraction (LVEF),left ventricular fractional shortening (LVFS)],cardiac size [cardiothoracic ratio (C/T)] and the proportion of death.The efficacy and safety of glucocorticoid were studied.Results No statistically significant difference of modified ROSS scores,LVEF,LVFS and C/T existed among the 3 groups before treatment (P＞0.05).After treatment,the modified ROSS score,LVEF,LVFS and C/T in glucocorticoid 0.5-1 year group were 2.06 ± 1.78,59.29 ± 8.34,31.24 ± 6.0 and 0.580 ± 0.055,respectively,which were significantly different from those before treatment (5.06 ± 1.92,38.76 ± 6.31,18.47 ± 3.14 and 0.67 ± 0.05,respectively,P＜0.05);the modified ROSS score,LVEF LVFS and C/T in glucocorticoid 1-2 years group were 1.28 ± 1.54,64.64 ± 9.08,35.44 ± 5.44 and 0.57 ± 0.06,which were significantly different from those before treatment (5.28 ± 2.26,37.88 ± 8.48,18.12 ± 4.99 and 0.67 ± 0.04,P＜0.05).After treatment,the modified ROSS score,LVEF,LVFS and C/T in no glucocorticoid group were 6.00 ± 1.48,42.91 ± 14.36,21.55 ± 8.63 and 0.63 ± 0.05,which were significantly different compared with those in glucocorticoid 0.5-1 year group and glucocorticoid 1-2 years group (P＜0.05).However,no significant difference existed between glucocorticoid 0.5-1 year group and 1-2 years group on the modified ROSS score,LVEF and C/T after treatment (P＞0.05).Conclusion The glucocorticoid has good clinical effect on endocardial fibroelastosis,and no significant difference is found on the efficacy between the total course of glucocorticoid therapy 0.5-1 year group and 1-2 years group.

Progress in etiology of primary endocardial fibroelastosis / 国际儿科学杂志

Endocardial fibroelastosis(EFE),associated with diffuse endocardial thickening due to proliferation of fibrous and elastic tissue,is a rare cardiac disorder that mainly occurs in infants. Its etiology is unknown,viral infection,immunology and genetics have been reported having effects on the pathogenesis of EFE.However, its pathogenesis is not yet fully understood. Recently,with the improvement of genetic testing techniques,many studies have shown that a variety of genetic factors involved in the occurrence of EFE. The TAZ gene on the X chromosome,the Nexn gene on the autosome,the Nebulette gene,the CSRP3 gene,the Sarcomere protein gene,and endothelial to mesenchymal transition(EndMT)are confirmed to be involved in the pathogenesis.This provides a new basis for the early diagnosis and accurate treatment of primary endocardial fibroelastosis and helps to improve the prognosis of the disease. This article discussess the etiology of EFE,including viral infection,immunology and genetics,aiming at raising awareness of the pathogenesis of this disease.

Diagnóstico ecográfico prenatal de fibroelastosis endocárdica / Prenatal ultrasound diagnosis of endocardial fibroelastosis

Se presenta el caso clínico de una gestante de 39 años de edad, quien fuera ingresada a las 22 semanas de gravidez en el Hospital Ginecoobstétrico Docente "Tamara Bunke Bider" de Santiago de Cuba, luego de ser remitida del Centro Provincial de Genética por el diagnóstico ecográfico prenatal de fibroelastosis endocárdica, confirmado en el Cardiocentro de esta provincia. Después de la interrupción del embarazo, sugerida en la consulta de Genética, se realizó la autopsia al feto y con el estudio hístico del ventrículo izquierdo se corroboró la miocardiopatía.

The case report of a 39-year-old pregnant woman is presented, who was admitted at 22 weeks of pregnancy to "Tamara Bunke Bider" Teaching Gynecoobstetric Hospital of Santiago de Cuba, after being referred from the Provincial Center of Genetics due to prenatal ultrasound diagnosis of endocardial fibroelastosis, confirmed at the Heart Center of this province. After abortion, suggested at the Department of Genetics, autopsy was performed and the fetal left ventricle tissue study confirmed cardiomyopathy.

Surgical treatment of secondary endocardial fibroelastosis / 中华胸心血管外科杂志

Objective To investigate surgical treatment and effect of secondary endocardial fibroelastosis,based on respective analysis of clinical data and follow-up data of patients with secondary endocardial fibroelastosis (SEF) between 2010 and 2012.Methods A retrospective analysis was performed including 10 patients with secondary endocardial fibroelastosis from January 2010 to December 2012 in Wuhan Union Hospital.All patients were diagnosed by Untrasonic Cardiogram and/or CT angiography of heart and great vessel,and had cardiac insufficiency in different degree [EF 0.37 ± 0.08 (0.26 ～ 0.48)].All patients except 2 patients with anomalous origin of the coronary artery received treatment of digitaloid drugs before operation,which promoted preoperative cardiac function.5 patients with SEF complicated with Congenital Coarctation of the Aorta (CoA),2 patients underwent correction of CoA,2 patients underwent correction of CoA and partial resection of endocardium,1 patient underwent correction of CoA,partial resection of endocardium and mitral vavuloplasty.2 patients with SEF complicated with anomalous origin of the left coronary artery from the pulmonary artery,who were underwent correction of anomalous origin of coronary artery.2 patients with SEF complicated with aortic stenosis,who were underwent aortic commissurotomy and partial resection of endocardium.1 patient with SEF complicated with mitral stenosis and insufficiency,who underwent mitral valve replacement.The intraopertive gross appearance of endocardium was opaque greyish-white not transparent pink.The postoperative pathological examination showed obviously positive dyeing of elastic fibers.In 3,6,12 and 24 months after operation,Untrasonic Cardiogram evaluated cardiac function and endocardium.Results one 6 months patients with origin of left coronary from pulmonary artery died of severe post-operative low cardiac output syndrome,while another 1 months patients with origin of left coronary from pulmonary artery obtained post-operative good recovery,and the Untrasonic Cardiogram show disappearance of endocardial fibroelastosis.The post-operative mean time of using respirator(4.0 ± 1.5) days (2-7 days).Compared with the preoperative data,the cardiac function index (EF) was not significantly better at 2 weeks and 3-6 months[0.38 ± 0.07 (0.28 ～ 0.48),P ＞ 0.05 ; 0.39 ± 0.08 (0.30 ～ 0.50),P ＞ 0.05],and the non-resected fibroelatic endocardium still existed and were not attenuated.But the cardiac function index (EF) significantly increased [0.44 ± 0.08 (0.38 ～ 0.55),P ＜ 0.05] than the pre-operative EF,and the 3 of 5 cases the fibroelatic endocardium were attenuated or disappeared,while 2 of 5 cases the fibroelatic endocardium still existed.Conclusion SEF is the important causes of the infant intractable heart failure,which has the characteristic of high mortality and limited therapy.For SEF patients with anomalous origin of the coronary artery,the SEF is completely reversed by early diagnosis and early correction of the malformation.For SEF patients with CoA or aortic stenosis,the surgical treatment could promote recovery of cardiac function,but whether the SEF were reversed is still subject to further follow-up.The heart transplantation is the best therapy for SEF with severse heart failure.

Progress of endocardial fibroelastosis / 中国小儿急救医学

Endocardial fibroelastosis(EFE) is a rare heart disease with a thickening of the endocardium by layers of collagenous and elastic fibres.Patients with EFE have diastolic and systolic heart failure.With the improvement of medicine,some progress has been achieved in EFE research.This article gave a comprehensive review to deepen the understanding of EFE.

Clinical analysis of 76 cases with endocardial fibroelastosis / 中华全科医师杂志

The clinical data of 76 children with EFE admitted from June, 1998 to December, 2009 was retrospectively analyzed. Tachypnea、 cough and cyanosis were common and all presented with heart failure. Electrocardiogram revealed sinus tachycardia 、left ventricular hyperthrophy and ST-T alterations. On chest radiograph 54 cases (54/76) had a cardiothoracic ratio ＞ 0. 65 and 33 with pneumonia.Echocardiopraphy revealed lowered left ventricular systolic function in all cases and decreased left ventricular diastolic function in 21 (21/76). 63 cases (63/76) presented with thickened and enhanced left ventricular endocardium and 11 (11/76) with thickened interventricular septals. All were treated with digitalis. 58children were improved and discharged, 10 gave up therapy and 8 died during hospitalization. 41 out of 58 improved cases were followed for 1 - 4 years, with 2. 6 years on average. Among them 28 were clinically cured, 7 deteriorated and 6 died of heart failure. Echocardiography is of diagnostic value for ERE. Systolic and diastolic function of the heart can be used to predict the outcome. Pulmonary infection is a major risk factor associated with deterioration. Long-term treatment is imperative to improve the prognosis.

Endocardial Fibroelastosis in a 57-Year-Old Transplant Recipient

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.

Study on Effect of Carvedilol on Children with Endocardial Fibroelastosis / 实用儿科临床杂志

Objective To observe the clinical effect and security of carvedilol on children with endocardial fibroelastosis(EFE).Methods Eighteen children with EFE treatment with carvedilol.The improvement of clinical symptom,heart rate,heart function,side effect and maximal tolerance dose after treatment with carvedilol were observed.Results The clinical symptom was obviously improved;eiection fraction(EF),fractional shortening(FS),mean velocity of circumferential fiber(Mvcf)were significantly increased,left ventricular end-systolic dimension(LVDS),left ventricular mass(LVmass),interventricular septal thickness(IVSs)were notably decreased after treatment with carvedilol.Conclusions The data indicates that carvedilol can significantly reduce left ventricular diastolic dimension(LVDD),IVSs,and LVmass,inhibit the remodeling of ventricle,significantly elevate the heart function of EFE.So carvedilol is benefit and security on children with EFE.

Aspectos clínicos e evolutivos da miocardiopatia dilatada nos lactentes e na infância / Clinical and evolutive aspects of dilated cardiomyopathy in infants and in childhood

Avaliar os aspectos clínicos, evolutivos e de prognóstico, em lactentes e crianças com miocardiopatia dilatada (MCPD). Trinta e oito pacientes divididos em grupos: A) lactentes até 23 (11,60 ñ 6,50) meses, 15 femininos, e B) 15 crianças de 2 a 12 (5,23 ñ 3,12) anos, a maioria (10) masculinos. O estudo foi retrospectivo, através de avaliaçäo clínica, eletrocardiográfica, radiológica e ecocardiográfica. A dispnéia aos esforços (inclusive às mamadas) foi sintoma predominante, observada em 15 (65,22%) pacientes do grupo A e 10 (66,6%) do B, seguida da cianose perilabial, em 7 (30,43%) e 6 (40%) pacientes respectivamente. No grupo A, a hipótese clínica foi de miocardite inespecífica (MI) em 8 (34,79%), e de MCPD "idiopática" em 3 (13,04%). No grupo B diagnosticou-se miocardite em 10 (66,67%) - sendo 5 inespecíficos - FEM em 3 (20%) e MCPD "idiopática" em 2 (13,33%). O tempo médio de evoluçäo foi de 5,48 meses no grupo A e 18,56 no B. No grupo A a evloluçäo foi ótima em 3 (13,04%), boa em 10 (43,46%), estável em 2 (8,70%) e má em 1 (4,35%), e no B: ótima em 8 (53,33%), boa em 3 (20%) e estável em 1 (6,67%), em nenhum má evoluçäo. Houve um óbito do grupo A (4,34%) e 6 pacientes deste grupo (26,09%) e 3 (20%) do B interromperam o controle evolutivo. 1) o prognóstico dos lactentes com MCPD, inclusive com hipótese diagnóstica de FEM parece ser menos sombrio do que habitualmente se supöe; 2) o prognóstico de crianças nas quais a MCPD é diagnosticada acima de 2 anos parece ser boa; ...