Endocardial fibroelastosis in infants and young children: a state-of-the-art review.

Endocardial fibroelastosis (EFE) is a rare cardiac condition characterized by excessive endocardial thickening secondary to fibroelastic tissues that commonly present in infants and young children. Most of endocardial fibroelastosis cases are secondary forms, which occur in conjunction with other cardiac diseases. Endocardial fibroelastosis has been associated with poor prognosis and outcomes. In light of recent advancements in understanding pathophysiology, several new data have revealed compelling evidence that abnormal endothelial-to-mesenchymal transition is the root cause of endocardial fibroelastosis. This article aims to review the recent development in pathophysiology, diagnostic workup, and management, and to discuss possible differential diagnoses.

Combined Aortic and Mitral Annular Enlargement With Fibrous Skeleton Reconstruction.

In a pediatric population, congenital or acquired disease of the aortic and mitral valves may coexist and sometimes require replacement of both valves. Enlargement of aortic and mitral annuli may also be required. We demonstrate a challenging case that required upsizing of both prosthetic valves by redo anterior aortoventriculoplasty and patch enlargement of the aortic-mitral fibrous body. This case highlights the complexity and feasibility of enlarging both annuli in a reoperative setting, to implant larger prostheses.

Endocardial fibroelastosis in a dog with congestive heart failure.

In a 6-month-old, intact female, Japanese spitz presenting with severe dyspnea, lung ultrasonography revealed confluent B lines associated with severe echocardiographic left sided volume overload and systolic dysfunction. A congenital shunt or valvular dysplasia was not demonstrable. On electrocardiogram, there was a constant sinus rhythm, respectively sinus tachycardia. Cardiac troponin I was normal. Within 2 days of admission, the dog died of heart failure. On macroscopic postmortem examination, the left ventricle and atrium were markedly dilated, and the left ventricular endocardium had a mild diffuse whitish appearance. Histopathology revealed moderate to severe thickening of the left ventricular endocardium, composed mostly of abundant elastic fibers and fewer collagen fibers, diagnostic for endocardial fibroelastosis. In addition, there were mild degenerative changes of the atrioventricular valves. Endocardial fibroelastosis is a rare congenital disease and should be considered in a young dog if more common causes of echocardiographic dilated cardiomyopathy phenotype are ruled out.

Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat.

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by ventricular chamber dilation associated with systolic myocardial dysfunction in the absence of other cardiac lesions. DCM occasionally develops in conjunction with proliferation of fibroelastic fibers in the endocardium, producing endocardial fibroelastosis (EFE). Although early reports describe EFE as a primary disease, evidence now suggests that EFE may develop as a response to myocardial dysfunction. Echocardiographic evaluation of a 4-wk-old Pallas cat ( Otocolobus manul) with respiratory distress revealed enlargement of both atria, enlarged end-systolic left ventricular dimension, and left ventricular dilation. DCM was diagnosed, and the cat was euthanized, given the poor prognosis. Postmortem examination revealed pericardial effusion and biventricular and biatrial enlargement. The interventricular septum and free walls of ventricles were thin. Histologically, the endocardium of the left and right ventricles was diffusely thickened; Verhoeff-Van Gieson staining of the left ventricular endocardium revealed a moderate amount of endocardial accumulation of elastin and collagen. These fibers were more prominent in papillary muscles and around coronary blood vessels. Based on these findings, we diagnosed DCM with EFE. Cardiac diseases are rarely diagnosed in wild felids.

Fibroelastoma papilar recurrente. ¿Es realmente un tumor benigno? / Recurrent cardiac fibroelastoma. is it really a benign tumor?

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Prolapse Volume to Prolapse Height Ratio for Differentiating Barlow's Disease From Fibroelastic Deficiency.

BACKGROUND: As mitral valve (MV) repair for Barlow's disease remains surgically challenging, it is important to distinguish Barlow's disease from fibroelastic deficiency (FED) preoperatively. We hypothesized that the prolapse volume to prolapse height ratio (PV-PH ratio) may be useful to differentiate Barlow's disease and FED.Methods and Results:In 76 patients with MV prolapse who underwent presurgical transesophageal echocardiography, the 3D MV morphology was quantified: 19 patients were diagnosed with Barlow's disease and 57 with FED. The patients with Barlow's disease had greater prolapse volume and height than the patients with FED, as well as greater PV-PH ratio (0.61±0.35 vs. 0.17±0.10, P<0.001). Receiver-operating characteristic analysis revealed that with a cutoff value of 0.27, the PV-PH ratio differentiated Barlow's disease from FED with 84.2% sensitivity and 84.2% specificity. Net reclassification improvement showed that the differentiating ability of the PV-PH ratio was significantly superior to prolapse volume (1.30, P<0.001). After being adjusted by each of prolapse volume and height, annular area and shape, and the number of prolapsed segments, the PV-PH ratio had an independent association with Barlow's disease. CONCLUSIONS: The PV-PH ratio was able to differentiate Barlow's disease from FED with high accuracy. 3D quantification including this value should be performed before MV repair.

Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series.

INTRODUCTION: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare but severe congenital cardiac malformation. The prognosis mainly depends on the early and accurate diagnosis and treatment. However, without a typical and specific clinical manifestation in early stage, ALCAPA has a higher rate of false initial diagnosis. DIAGNOSTIC AND THERAPEUTIC PROCEDURE: Three infants with impaired left ventricle (LV) function, LV enlargement, mitral valve regurgitation (MR), and LV endocardium thickness were initially diagnosed as endocardial fibroelastosis (EFE). Due to the treatment effectiveness with prednisone acetate and digoxin, abnormal Q waves with T inversion, and dilated right coronary artery (RCA), the diagnosis of ALCAPA was suspected. Lastly, cardiac angiography confirmed the diagnosis. All of them were transferred to the cardiac surgery department and received a successful surgical repair. The follow-up results showed that abnormal Q waves with T waves inversion on electrocardiogram gradually regressed and disappeared, LV ejection fraction and LV dilation returned to a normal range after surgery, with alleviation of MR. Besides, endocardial thickness secondary to ischemia also returned to normal. CONCLUSION: ALCAPA should be suspected when confronted with patients with left heart enlargement, impaired left ventricular function, and signs of myocardial ischemia, particularly in infancy. EFE is an important differential diagnosis and may also arise as a result of ALCAPA. Abnormal Q waves with T waves inversion, particularly in avL, dilated RCA and increased ratio of RCA/AO are important differential key points for the identification of ALCAPA and EFE. Awareness of this condition is essential for prompt recognition and referral to a tertiary cardiac center to enable early surgical intervention and improved prognosis for these children.

Serial echocardiography for immune-mediated heart disease in the fetus: results of a risk-based prospective surveillance strategy.

OBJECTIVE: Mothers carrying anti-Ro antibodies are frequently referred for weekly echocardiograms to early detect and treat antibody-mediated fetal heart disease. We tested a surveillance strategy based on anti-Ro antibody titers. METHODS: From 2009 to 2014, 232 pregnancies were referred for maternal anti-Ro antibodies. At the baseline echocardiogram, anti-Ro titers were measured by enzyme-linked immunosorbent essay and results categorized as negative (<8 U/mL; n = 43; excluded), low-moderate positive (8-49 U/mL; n = 62; group 1) or high positive (50 - >100 U/mL; n = 127; group 2). Serial echocardiograms to ≥24 weeks were only recommended for group 2 mothers. RESULTS: Group 1 patients underwent significantly less fetal echocardiograms when compared with group 2 mothers (median 2 vs. 4; p < 0.001). Isolated endocardial fibroelastosis (n = 1) and incomplete (n = 4) or complete (n = 4) heart block were diagnosed in 9 (8%) pregnancies with anti-Ro titers >100 U/mL but none with lower titers (odds ratio 17.78; p = 0.004). Incomplete block and endocardial fibroelastosis regressed with transplacental corticosteroid and immune globulin therapy. CONCLUSIONS: Limiting serial fetal echocardiograms to women with high anti-Ro antibody levels is safe and more cost effective. While numbers of echocardiograms were significantly reduced in referrals with anti-Ro titers <50 U/mL, reversible abnormalities with prenatal treatment were detected by serial echocardiography in group 2 patients. © 2017 John Wiley & Sons, Ltd.

Primary endocardial fibroelastosis and nonimmune hydrops fetalis: case report with autopsy.

Endocardial fibroelastosis is an important cause of congestive heart failure and death in infancy and early childhood. When present, it is commonly associated with non immune hydrops fetalis. The aim of this study is to draw attention for possible cardiac abnormalities in cases of fetal hydrops, and report a case of premature death by primary endocardial fibroelastosis with autopsy.

Cardiac tumors.

Cardiac tumors are a group of rare disorders with a frequency that varies in population studies between 0.0017% and 0.33%. There are primary cardiac tumors with an incidence of 5% of all cardiac tumors and secondary tumors (metastases of the heart) in 95% of cases. Symptoms are nonspecific and can mimic many other heart diseases. This fact makes the diagnosis of cardiac tumors very difficult. Approximately 75% of the primary cardiac tumors are benign; the most frequent histological type encountered is myxoma in 50% of cases, followed by cardiac fibromas, lipomas, rhabdomyomas, hemangiomas, teratomas, papillary fibroelastomas, pericardial cysts or cystic tumor of the atrioventricular node region. Secondary cardiac tumors (metastases) are 20 times more common than primary cardiac tumors. Paraclinical methods (especially imaging evaluation) are always necessary for the complete diagnosis: transthoracic and transesophageal echocardiograms are the gold standard investigations in the diagnosis of the cardiac tumors; CT scans together with MRIs are complementary diagnostic methods that are useful when the diagnosis is uncertain. In the majority of cases surgical treatment is recommended.

[Congenital atresia of left main coronary artery in 4 children: case report and literature review].

OBJECTIVE: To investigate the clinical manifestations and treatment of congenital atresia of the left main coronary artery (CLMCA-A). METHOD: Four patients were diagnosed to have CLMCA-A from June 2010 to June 2012 in Beijing Anzhen Hospital. Clinical manifestations, ultrasound, ECG and angiographic characteristics were analyzed and summarized. RESULT: Of the 4 cases, age of onset was 3 months to 2 yrs. Three cases were diagnosed by angiography, and 1 case by CTA . All 4 cases had chronic heart failure symptoms and signs, such as sweating, shortness of breath, easily choked by milk, predispose to pneumonia, activity intolerance. ECG showed abnormal Q wave and other ischemic signs such as ST-T segment depression. Ultrasonography showed left ventricular enlargement, left ventricular systolic function was normal or slightly reduced, and there was moderate to large amount of mitral valve regurgitation. Left ventricular trabeculations increased. Coronary collateral circulation increased. Left coronary artery appeared to be slender and disconnected with left coronary artery sinus. Aortic root angiography was the golden diagnostic standard. Angiography was performed in 3 patients and showed that left main coronary artery had a blind end, diameter 1.1-2.0 mm. The right coronary artery was found rising from the right coronary sinus and visible on coronary collateral circulation. Contrast agent developing sequence: right coronary artery-collateral vessels-left coronary artery distal branches-left main coronary artery. CTA exam was performed in 2 cases and in 1 case the diagnoses was confirmed. All the 4 patients are currently in the close follow-up, digoxin and diuretics were taken everyday and clinical symptoms were improved. CONCLUSION: CLMCA-A is not rare, its clinical manifestations should be differentiated from those of cardiomyopathy, endocardial fibroelastosis, congenital valvular disease and abnormal left coronary artery originating from pulmonary artery etc. For pediatric patients with cardiac enlargement, abnormal heart function, mitral valve regurgitation etc, attention must be paid to consider the developmental abnormality of coronary artery, particularly the CLMCA-A diagnosis.

Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children.

BACKGROUND: Endocardial fibroelastosis (EFE) is a thickening of the endocardium by collagen and elastic fibers. Primary EFE is characterized by a dilated left ventricle (LV) that typically has a high takeoff of the papillary muscles and thickening of the free edge of the mitral valve leaflets, in addition to diffuse thickening of the endocardium by aortic-like thick and parallel elastic fibers. In the past, EFE was considered a rare cardiomyopathy, but in the latest American Heart Association classification (2006) of cardiomyopathies, EFE is not mentioned. The existence of the entity of "primary" EFE has been questioned. METHODS: We reviewed medical records, echocardiograms, explanted hearts, and microscopic slides from 52 pediatric heart transplant cases at our institution with a diagnosis of dilated cardiomyopathy (DCM). RESULTS: Fourteen hearts showed both gross and microscopic findings of primary EFE, with no apparent cause of the diffuse endocardial thickening. Patients with EFE were significantly younger than patients with DCM (median age: 10.1 vs. 142.0 months). No case of EFE was diagnosed clinically. LV wall and endocardial thickness were significantly greater in EFE, with the mitral valve and papillary muscles showing characteristic findings. CONCLUSIONS: Clinically and pathologically, EFE is different from DCM. EFE is not rare and found in 25% of pediatric cases transplanted for "DCM." EFE should be recognized to promote understanding of the natural history and etiology of EFE.

Fibroelastosis endocárdica: descripción de un nuevo caso clínico desde atención primaria / Endocardial fibroelastosis: reporting a new case from the outpatient’s department

La fibroelastosis endocárdica es una causa reconocida, aunque poco frecuente, de muerte súbita infantil. Se trata de una enfermedad rara con un índice de mortalidad muy alto. Su presentación típica es la de una insuficiencia cardiaca global de rápida evolución o arritmias, que requiere un trasplante cardiaco. Se presenta el caso de una niña de 19 meses de edad que, tras un proceso afebril compatible con un cuadro de vías respiratorias altas de 24 horas de evolución, presenta un paro cardiorrespiratorio y es trasladada a un área básica de salud, falleciendo a las pocas horas de su ingreso en la unidad de cuidados intensivos a la que fue derivada posteriormente. En el estudio post mortem se hallaron cambios compatibles con una fibrosis laxa endocárdica(AU)

Endocardial fibroelastosis is a known but rare cause for sudden death in children. It is a rare disease with a high rate of mortality. Its usual presentation is similar to global cardiac insufficiency or arrhythmia leading to heart transplantation. We report the case of a 19-month old female who, after having 24 hours of a non feverish upper respiratory infection, went into cardiac arrest and was taken to the outpatient's department, but died a few hours later in the intensive care unit. In post-mortem studies evidence of endocardial fibrosis laxa was found(AU)

MRI finding of a papillary muscle cyst: a differential diagnosis.

Cystic lesions of the papillary muscle in the form of myxoma, hydatid cyst, papillary fibroelastoma, blood-filled cysts and endodermal heterotopia are rare causes of embolic stroke. In view of the potential complications caused by these lesions, surgery is often advocated but there is no consensus on which patients qualify. We examined a differential diagnosis of a papillary muscle cystic lesion in a patient presenting with features of embolic disease and identified the imaging features on MRI that directed management.

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.