Endomyocardial fibrosis and apical calcification: A case report with unusual presentations of apical hypertrophic cardiomyopathy.

RATIONALE: Apical hypertrophic cardiomyopathy (ApHCM) is a phenotypic variant of hypertrophic cardiomyopathy. Endomyocardial fibrosis and endocardial calcification are especially rare in ApHCM. PATIENT CONCERNS: The main symptoms was chest tightness, palpitation, shortness of breath, and fatigue. Echocardiography and imaging examinations found apical hypertrophy along with endocardial calcification and endomyocardial fibrosis. Abnormal structural changes led to thrombosis and made the left ventricle a flat shape resembling an "apple." DIAGNOSES: The typical presentations, hypertrophic apex on echocardiography and an elevated N-terminal pro-brain natriuretic peptide level indicated the diagnosis of ApHCM and heart failure with preserved ejection fraction. INTERVENTIONS: Optimal medical therapy including the administration of ApHCM, heart failure and atrial fibrillation to improve symptoms and life quality. OUTCOMES: Since discharge, the patient could perform normal daily activities and had no discomfort based on the optimal medical therapy. LESSONS: We report a ApHCM patients with unusual presentations of endomyocardial fibrosis and apical calcification. This case highlights the importance of understanding the specific pathological changes of ApHCM for treatment and prognosis.

Left ventricle endomyocardial fibrosis: a case report.

BACKGROUND: Endomyocardial fibrosis is a grim disease. It is the most common restrictive cardiomyopathy worldwide, but the exact etiology and pathogenesis both remain unknown. Endomyocardial fibrosis is recurrently associated with chronic eosinophilia and probable dietary, environmental, and infectious factors, which contribute not only to the onset of the disease (an inflammatory process) but also to its progression and maintenance (endomyocardial damage and scar formation). The trademark of the disease is the fibrotic obliteration of the affected ventricle. The combination of such processes produces focal or diffuse endocardial thickening and fibrosis, which leads to restrictive physiology. Endomyocardial fibrosis affects the apices of the right and the left ventricle in around 50% of cases and most often extends to the posterior leaflet of the mitral valve. Sometimes it involves the papillary muscle and chordae tendineae, causing atrioventricular valve dysfunction. The fibrosis does not affect extracardiac organs. This cardiomyopathy is most recurrent in tropical areas of the world. CASE PRESENTATION: A 67-year-old Black male with past medical history of schistosomiasis infection in childhood presented with progressive dyspnea, lower extremity edema, and weakness for 2 years. He was diagnosed with endomyocardial fibrosis. The echocardiogram showed an increased thickness in the septum (17 mm) and free left ventricular wall (15 mm), obliteration of the left ventricular apex and inflow tract, and mitral valve regurgitation. Cardiac magnetic resonance imaging revealed apical left ventricle wall thickening with left ventricular apical obliteration associated with enlargement of the respective atrium. Delayed enhancement imaging showed endomyocardium enhancement involving left ventricular apex, mitral valve regurgitation due to annulus dilation, and a thrombus at left ventricular apex. He underwent open heart surgery with mitral valve replacement, endocardial decortication, endomyocardiectomy, and two-vessel coronary artery bypass grafting as preoperative coronary angiogram showed mild right coronary artery and proximal left anterior descending artery severe lesions. Postoperative course was uncomplicated, and he was discharged successfully from the hospital. Six months after surgery, he was New York Heart Association functional class I. CONCLUSION: The purpose of this case report is to illustrate the aspects of endomyocardial fibrosis by reporting a case of this entity. In conclusion, progress in imaging techniques and treatment in a reference institution for cardiac diseases contribute to earlier diagnosis and survival in patients with endomyocardial fibrosis.

Fibrosis Endomiocárdica: Presentación de Caso Clínico y Revisión de la literatura / Endomyocardial Fibrosis: Case Report and Literature Review

La fibrosis endomiocárdica (FEM) es una enfermedad rara y potencialmente letal caracterizada por la infiltración de tejido fibrótico en el endocardio y miocardio. Es más comúnmente observada en regiones tropicales y subtropicales, y se cree que es causada por la combinación de factores genéticos y ambientales. Su patogénesis aún no está del todo clara, pero es posible que esté relacionada con una respuesta inmune anormal ante múltiples estímulos, incluyendo infecciones virales, parásitos, trastornos hematológicos y deficiencias alimentarias. Esta condición es una de las principales manifestaciones de los síndromes hipereosinofílicos (SHE). Pese a los avances en el manejo, el pronóstico de los pacientes con FEM persiste siendo pobre, con un alto riesgo de recurrencia y de progresión hacia insuficiencia cardiaca. A continuación, presentaremos el caso de un paciente joven con un cuadro de insuficiencia cardiaca de predominio derecho en el contexto de un síndrome hipereosinofílico de base, en quien se establece el diagnóstico de FEM según lo documentado en las imágenes cardiacas.

Endomyocardial Fibrosis: Case Report and Literature Review. Endomyocardial fibrosis (EMF) is a rare and potentially life-threatening cardiac disorder characterized by the infiltration of fibrotic tissue into the endocardium and myocardium of the heart. It is most seen in tropical and subtropical regions, and it is believed to be caused by a combination of environmental and genetic factors. The exact pathogenesis of EMF is not fully understood, but it is thought to be related to an abnormal immune response to various stimuli, including viral infections, parasites, and dietary deficiencies. This condition is one of the main manifestations of hypereosinophilic syndromes. Despite advances in treatment, the prognosis for patients with EMF remains poor, with a high risk of recurrence and progression to heart failure. We present a case of a young male patient with an episode of right heart failure in the context of a chronic hypereosinophilic syndrome in which the diagnosis of EMF is made with the aid of cardiovascular imaging.

Surgical Management of The Endomyocardial Fibrosis of Right Ventricle Mimicking Tumor with Recurrent Pulmonary Embolism.

Endomyocardial fibrosis is a neglected tropical disease that leads to restrictive cardiomyopathy. Its etiopathogenis is unclear and involves the progression of 3 stages of the disease. Compared with echocardiography, cardiac magnetic resonance imaging shows better apical visualization of obliteration and thrombus and provides an early diagnosis. However, there is no specific drug therapy, although surgery can increase survival. Therefore, surgical resection of the fibrous and thickened endocardium is recommended for symptomatic patients. The risk of mortality increases as the ratio of endocardial fibrous tissue per body surface rises. The aim of this manuscript is to describe the surgical management of the right-sided endomyocardial fibrosis mimicking tumor with recurrent pulmonary embolism.

Fibrosis endomiocárdica: una cardiomiopatía restrictiva en países en vía de desarrollo / Endomyocardial fibrosis: a restrictive cardiomyopathy in developing countries

Resumen Objetivo: La fibrosis endomiocárdica (FE) es una cardiomiopatía restrictiva infrecuente. En América Latina son escasos los reportes. En el presente trabajo se realiza una descripción de una serie de pacientes diagnosticados de FE en Colombia. Método: Realizamos una búsqueda en los registros de imágenes de resonancia magnética (RM) cardiaca realizadas en nuestra institución entre 2016 y 2019 en busca de pacientes con diagnóstico de FE. Se describieron sus características sociodemográficas, clínicas y de imagen. Resultados: Nueve pacientes fueron diagnosticados de FE (el 66.7% mujeres), con una edad promedio de 69 años. Los pacientes presentaron un promedio de 2.6 años de evolución. El principal síntoma referido fue disnea, seguido de síncope, dolor torácico y palpitaciones. En ninguno de ellos se sospechó FE como diagnóstico inicial. En cuanto a los hallazgos ecocardiográficos, se identificó compromiso predominante del ventrículo izquierdo, seguido de compromiso biventricular. Todos los pacientes presentaron patrón de llenado restrictivo con dilatación auricular izquierda severa. En el análisis retrospectivo se cumplieron los criterios de Mocumbi para el diagnóstico de FE en el 100% de los pacientes con gravedad moderada (77.8%). Las imágenes de RM mostraron función sistólica biventricular y volúmenes preservados. Se observó depósito focal de gadolinio subendocárdico a nivel apical y se confirmó la presencia de trombo en el 66% de los casos Conclusión:: La FE es una cardiomiopatía restrictiva infrecuente circunscrita a países tropicales. La mayoría de los pacientes en nuestra serie presentaron compromiso aislado del ventrículo izquierdo, seguido de compromiso biventricular, con función ventricular usualmente preservada.

Abstract Objective: Endomyocardial fibrosis (EF) is an unusual restrictive cardiomyopathy. In Latin America there are few reports. Here, we made a description of patients diagnosed with EF in Colombia. Method: We conducted a search in the records of cardiac magnetic resonance imaging (MRI) performed in our institution between 2016-2019 looking for patients with a diagnosis of EF; sociodemographic, clinical and imaging characteristics were described. Results: Nine patients were diagnosed with EF (66.7% female), with an average age of 69 years. Patients presented an average evolution of 2.6 years. The main reported symptom was dyspnea, followed by syncope, chest pain, and palpitations. None of them was initially suspected for EF. Regarding echocardiographic findings, predominant left ventricular involvement was identified, followed by bi-ventricular involvement. All the patients presented a restrictive filling pattern with severe left atrial dilation. In a retrospective analysis, Mocumbi criteria for diagnosis of EF were met in 100% of the patients, majority with moderate severity (77.8%). Cardiac MRI showed biventricular systolic function and volumes preserved. Focal subendocardial late gadolinium enhancement was observed on the apex and apical thrombus was confirmed in 66% of the patients Conclusion: FE is an uncommon restrictive cardiomyopathy limited to tropical countries. Most of patients in our series presented isolated involvement of left ventricle, followed by bi-ventricular involvement, with ventricular function usually preserved.

Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies.

The restrictive cardiomyopathies constitute a heterogeneous group of myocardial diseases with a different pathogenesis and overlapping clinical presentations. Diagnosing them frequently poses a challenge. Echocardiography, electrocardiograms and laboratory tests may show non-specific changes. In this context, cardiac magnetic resonance (CMR) may play a crucial role in defining the diagnosis and guiding treatments, by offering a robust myocardial characterization based on the inherent magnetic properties of abnormal tissues, thus limiting the use of endomyocardial biopsy. In this review article, we explore the role of CMR in the assessment of a wide range of myocardial diseases causing restrictive patterns, from iron overload to cardiac amyloidosis, endomyocardial fibrosis or radiation-induced heart disease. Here, we emphasize the incremental value of novel relaxometric techniques such as T1 and T2 mapping, which may recognize different storage diseases based on the intrinsic magnetic properties of the accumulating metabolites, with or without the use of gadolinium-based contrast agents. We illustrate the importance of these CMR techniques and their great support when contrast media administration is contraindicated. Finally, we describe the useful role of cardiac computed tomography for diagnosis and management of restrictive cardiomyopathies when CMR is contraindicated.

Endomyocardial fibrosis of the right ventricle: A case report of successful surgery.

AIMS: The case we report, shows a successful treatment of right ventricle endomyocardial fibrosis. MATERIALS AND METHODS: Surgical therapy by endocardial decortication seems to be beneficial for many patients with advanced disease who are in functional-therapeutic class III or IV. The operative mortality rate is high, but successful surgery has a clear benefit on symptoms and seems to favourably affect survival as well.

Apical hypertrophic cardiomyopathy with apical endomyocardial fibrosis and calcification: Two case reports.

RATIONALE: Apical hypertrophic cardiomyopathy (AHCM) is a rare form of hypertrophic cardiomyopathy which affects predominantly the apex of the left ventricle. Generally, left ventricular enlargement is not present in AHCM; additionally, endomyocardial fibrosis, and calcification are also rare. PATIENT CONCERNS: A 61-year-old female (Case 1) and a 60-year-old female (Case 2) both presented with the symptoms of atypical chest pain, dyspnoea, exercise intolerance, palpitations. DIAGNOSIS: Magnetic resonance and single-photon emission computed tomography (SPECT) revealed apical hypertrophic cardiomyopathy. Furthermore, 2D-transthoracic echocardiogram showed left atrium and ventricular enlargement, as well as endomyocardial fibrosis and calcification. Based on these findings, the patients were diagnosed with AHCM. INTERVENTIONS: Both the patients were treated with ACEI, metoprolol, and aspirin. Additionally, both these patient underwent genetic test. OUTCOMES: The results of the genetic test of the 2 cases for hypertrophic cardiomyopathy (HCM) were negative. However, the gene mutation for dilated cardiomyopathy (TMPO) was detected in one of the cases. No change in condition during follow-up. LESSONS: In past reports, Apical hypertrophic cardiomyopathy has been shown to have a benign prognosis. But in this case report, the imaging studies of the 2 patients suggest a poor prognosis. Furthermore, diagnosing cardiomyopathy should require multimodality imaging examinations to rule out differential diagnoses.

Ventricular endomyocardial fibrosis in a pregnant female with Behçet's disease.

A 32-year-old pregnant woman, diagnosed with Behçet's disease 6 months earlier, presented with recent mild hemoptysis and exertional dyspnea. Transthoracic echocardiography showed an enlarged dysfunctional right ventricle. A large hypoechoic triangular-shaped mass was seen attached to the inner right ventricular wall, filling the cavity. No change in the size of the mass was noted after anticoagulant administration, and right heart failure progressed. Surgery was performed to remove the mass and repair the tricuspid valve. This was a very rare presentation of Behçet's disease in pregnancy, which resulted in delivery of a completely healthy baby despite corticosteroid pulse therapy and cyclophosphamide.

Endomyocardial fibrosis with right ventricular aneurysm mimicking ARVC - A case report from India.

A 48-year-old man presented with chronic right sided heart failure. 2D echocardiography revealed the classical features of left ventricular endomyocardial fibrosis with a prominent right ventricular apical aneurysm. Right ventriculography further defined the aneurysm. Cardiac magnetic resonance images revealed a thin-walled, apical aneurysm of right ventricle with multiple septations and marked obliteration of left ventricular apex. A delayed-enhancement sequence after the infusion of contrast, demonstrated a hypersignal in the subendocardium, consistent with the right ventricular involvement of endomyocardial fibrosis. This patient had classical features of left ventricular endomyocardial fibrosis, while on the right side the typical features were missing. This aneurysm may be a passing phase of the natural history of endomyocardial fibrosis before the development of burned out stage. This aneurysm may later develop thrombus, and which may progress to fibrosis and apical obliteration. Endomyocardial fibrosis with right ventricular aneurysm has not heretofore been reported in the medical literature.

A Rare Case of Mitral Valve Prolapse in Endomyocardial Fibrosis.

Mitral valve prolapse in endomyocardial fibrosis (EMF) is an unusual entity. Literature search reveals only 1 report of mitral valve prolapse assosiated with EMF. A 32-year-old woman, of African origin, who presented with features of right heart failure, was diagnosed to have mitral valve prolapse of rheumatic origin with severe mitral regurgitation and severe pulmonary hypertension (PAH). Intraoperative findings lead to the diagnosis of EMF. We report this rare case of mitral valve prolapse in EMF, in a geographical area where rheumatic heart disease is endemic, to showcase how a rare manifestation of EMF can be misdiagnosed as that of rheumatic heart disease.