Histological Typing in Patients With Cardiac Amyloidosis: JACC Review Topic of the Week.

Cardiac amyloidosis is increasingly recognized as a treatable form of heart failure. Highly effective specific therapies have recently become available for the 2 most frequent forms of cardiac amyloidosis: immunoglobulin light chain amyloidosis and transthyretin (ATTR) amyloidosis. Nevertheless, initiation of specific therapies requires recognition of cardiac amyloidosis and appropriate characterization of the amyloid type. Although noninvasive diagnosis is possible for ATTR cardiac amyloidosis, histological demonstration and typing of amyloid deposits is still required for a substantial number of patients with ATTR and in all patients with light chain amyloidosis and other rarer forms of cardiac amyloidosis. Amyloid histological typing can be performed using different techniques: mass spectrometry, immunohistochemistry, and immunoelectron microscopy. This review describes which patients require histological confirmation of cardiac amyloidosis along with when and how to type amyloid deposits in histologic specimens. Furthermore, it covers the characteristics and limitations of the different typing methods that are available in clinical practice.

The cardiomyopathy of cystic fibrosis: a modern form of Keshan disease.

Introduction: We conducted a study to determine the prevalence of structural heart disease in patients with CF, the characteristics of a cardiomyopathy not previously described in this population, and its possible relationship with nutritional deficiencies in CF. Methods: We studied 3 CMP CF patients referred for heart-lung transplantation and a prospective series of 120 adult CF patients. All patients underwent a clinical examination, blood tests including levels of vitamins and trace elements, and echocardiography with evaluation of myocardial strain. Cardiac magnetic resonance imaging (CMR) was performed in patients with CMP and in a control group. Histopathological study was performed on hearts obtained in transplant or necropsy. Results: We found a prevalence of 10% (CI 4.6%-15.4%) of left ventricular (LV) dysfunction in the prospective cohort. Myocardial strain parameters were already altered in CF patients with otherwise normal hearts. Histopathological examination of 4 hearts from CF CMP patients showed a unique histological pattern of multifocal myocardial fibrosis similar to Keshan disease. Four of the five CF CMP patients undergoing CMR showed late gadolinium uptake, with a characteristic patchy pattern in 3 cases (p < 0.001 vs. CF controls). Selenium deficiency (Se < 60 µg/L) was associated with more severe LV dysfunction, higher prevalence of CF CMP, higher NTproBNP levels, and more severe pulmonary and digestive involvement. Conclusion: 10% of adults with CF showed significant cardiac involvement, with histological and imaging features resembling Keshan disease. Selenium deficiency was associated with the presence and severity of LV dysfunction in these patients.

Sarcoma pulmonar mixoide primario asociado a traslocación EWSR1-CREB1 con micrometástasis locorregional / Primary pulmonary myxoid sarcoma associated with translocation EWSR1-CREB1 and locorregional micrometastases

El sarcoma pulmonar mixoide primario es una entidad poco frecuente con un crecimiento endobronquial, del cual debe realizarse un diagnóstico diferencial con otros sarcomas pero aun así suele presentar buen pronóstico. Presentamos el caso de una paciente de 51 años con un tumor mesenquimal en el pulmón derecho, que corresponde a un sarcoma pulmonar mixoide primario que mostró una tinción positiva para EMA, vimentina y un Ki67 menor del 5% y por método FISH presentó la traslocación EWSR1-CREB1

Primary myxoid pulmonary sarcoma is a rare entity with an endobronchial growth. Although it should be included in the differential diagnosis of other sarcomas, its prognosis is usually favorable. We present the case of a 51-year-old patient with a mesenchymal tumor in the right lung, diagnosed as a primary pulmonary myxoid sarcoma, positive for EMA, vimentine and with a Ki-67 less than 5%; FISH revealed a EWSR1-CREB1 translocation

Sangrado apendicular: una causa excepcional de hemorragia digestiva baja / Appendicular bleeding: an excepcional cause of lower hemorrhage

Las complicaciones crónicas de la apendicitis aguda manejada de forma conservadora son infrecuentes. Presentamos un caso de hemorragia digestiva baja aguda en paciente joven con antecendente de apendicitis aguda no intervenida. En la colonoscopia se detectó un sangrado apendicular que se trató quirúrgicamente. El diagnóstico anatomopatológico fue de apendicitis granulomatosa. La evolución clínica del paciente fue favorable sin recidiva hemorrágica. La hemorragia apendicular puede ser una complicación inusual potencialmente grave de la apendicitis aguda no intervenida (AU)

Chronic complications of acute appendicitis managed in a conservative manner are not frequent. We present a case of acute lower gastrointestinal hemorrhage in a young patient with a previous acute appendicitis without surgical intervention. The colonoscopy detected an appendicular bleeding which was surgically treated. The anatomopathological diagnosis was granulomatous appendicitis. The clinical evolution of the patient was favorable without bleeding recurrence. Appendicular hemorrhage can be an unusual complication—however potentially severe—of acute appendicitis not treated surgically (AU)

Nódulos pulmonares cavitados con relación a la enfermedad por depósito de IgG4 / Cavitary Lung Nodules Associated with IgG4-Deposition Disease

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Papel de la gammagrafía cardiaca con 99mTc-DPD en la discriminación del subtipo de amiloidosis cardiaca / Role of cardiac scintigraphy with 99mTc-DPD in the differentiation of cardiac amyloidosis subtype

Introducción y objetivos. Hemos estudiado la exactitud diagnóstica de la gammagrafía cardiaca con 99mTc-ácido 3,3-difosfono-1,2-propanodicarboxílico (99mTc-DPD) para la diferenciación de la amiloidosis cardiaca por depósito de cadenas ligeras de inmunoglobulina monoclonal y la relacionada con el depósito de transtiretina. Métodos. Se incluyó en el estudio a 19 pacientes con amiloidosis cardiaca demostrada: 8 con amiloidosis cardiaca relacionada con la transtiretina (grupo A) y 11 con amiloidosis cardiaca por depósito de cadenas ligeras de inmunoglobulina monoclonal (grupo B). A todos los pacientes se les realizó gammagrafía cardiaca con 99mTc-DPD y con 99mTc-metilendifosfonato (99mTc-MDP). Resultados. En la valoración visual, la captación cardiaca de 99mTc-DPD tenía intensidad moderada o intensa (grados 2-3) y distribución biventricular o ventricular en todos los pacientes del grupo A y era de nula a ligera (grados 0-1) y de distribución difusa en todos los del grupo B. La captación de 99mTc-DPD también estaba ausente (grado 0) en los controles normales y en 2 familiares sanos de pacientes con amiloidosis hereditaria relacionada con la transtiretina que eran portadores de una mutación patogénica en el gen TTR. Todos los pacientes mostraron ausencia de captación miocárdica en la gammagrafía con 99mTc-MDP (grado 0-1). En nuestro estudio, la captación selectiva de 99mTc-DPD proporcionó una exactitud del 100% (intervalo de confianza del 95%, 97,37-100%) para la diferenciación de la etiología relacionada con la transtiretina frente a amiloidosis cardiaca por depósito de cadenas ligeras de inmunoglobulina monoclonal. Conclusiones. La gammagrafía cardiaca con 99mTc-DPD es una herramienta para el diagnóstico diferencial entre la amiloidosis relacionada con la transtiretina y la amiloidosis cardiaca por depósito de cadenas ligeras de inmunoglobulina monoclonal en pacientes con amiloidosis cardiaca (AU)

Introduction and objectives. We investigated the diagnostic accuracy of technetium-99m-3,3-diphosphono-1,2 propanodicarboxylic acid (99mTc-DPD) scintigraphy in differentiating between monoclonal immunoglobulin light chain and transthyretin-related cardiac amyloidosis. Methods. Nineteen patients with documented cardiac amyloidosis were included: 8 with transthyretin-related amyloidosis (group A) and 11 with light chain amyloidosis (group B). All the patients underwent scintigraphy with 99mTc-DPD and technetium-99m-methylene diphosphonate (99mTc-MDP). Results. On visual scoring, cardiac 99mTc-DPD uptake could be characterized as moderate to severe (scores of 2-3), with ventricular or biventricular distribution, in all group A patients (transthyretin-related cardiac amyloidosis), and was absent or mild (scores of 0-1) and diffusely distributed in all group B patients (monoclonal immunoglobulin light chain cardiac amyloidosis). 99mTc-DPD uptake was also absent (score of 0) among unaffected controls and in 2 unaffected relatives of patients with hereditary transthyretin-related amyloidosis who harbor a mutation in the transthyretin gene. With 99mTc-MDP, all the patients had a myocardial uptake score of 0-1. In our series, selective myocardial uptake of 99mTc-DPD provided 100% accuracy (95% CI, 97.37%-100%) for the differentiation between transthyretin-related and light chain cardiac amyloidosis. Conclusions. We conclude that 99mTc-DPD scintigraphy is a useful test for the differential diagnosis of transthyretin versus light chain etiology in patients with cardiac amyloidosis (AU)

¿Paratiroides mediastínica o adenopatía infiltrada por neoplasia endocrina? / Mediastinal parathyroid gland or adenopathy with endocrine cancer infiltration?

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Artritis reumatoide, metotrexato y linfoma no hodgkiniano. Estudio de 3 pacientes / Rheumatoid arthritis, methotrexate and non-Hodgkin’s lymphoma. A report of 3 patients

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