Amiloidosis cardíaca en un paciente con mieloma múltiple / Cardiac amyloidosis in a patient with multiple myeloma

Resumen La amiloidosis sistémica constituye una enfermedad poco frecuente, donde la infiltración cardíaca es la principal causa de morbimortalidad, sin importar la causa subyacente del depósito amiloide. Se reporta el caso de una paciente femenina de 48 años con síndrome nefrótico, insuficiencia cardíaca e inmunocompromiso, estableciéndose el diagnóstico de amiloidosis primaria con infiltración cardíaca secundaria a mieloma múltiple. Se discute brevemente la enfermedad, la importancia del juicio clínico apoyado en medios diagnósticos y los retos terapéuticos actuales.

Abstract Systemic amyloidosis constitutes a non common disease in which cardiac involvement is the leading cause of morbidity and mortality, regardless of the underlying pathogenesis of amyloid production. We present the case of a 48 years old female with nephrotic syndrome, heart failure and immunocompromise in which Primary Amyloidosis with cardiac involvement secondary to Multiple Myeloma is established as diagnosis. The disease is briefly discussed, as well as the value of clinical judgment supported on diagnostic means and the therapeutic challenges now days.

Rotação ventricular esquerda anormal em mulher com talassemia / Abnormal left ventricular torsion in woman with thalassemia

Introdução: Cardiomiopatia induzida pelo ferro é bem documentada em pacientes com talassemia. A ecocardiografia convencional associada a novas tecnologias pode detectar, precocemente, alterações na função ventricular esquerda nesses pacientes. Relato do caso: Mulher, 50 anos, assintomática, com diagnóstico de talassemia, mostra parâmetros ecocardiográficos convencionais e Doppler tecidual normais com alteração na torção e rotação ao speckle tracking. Comentários:A detecção precoce de alterações da função cardíaca por meio de novas tecnologias, em pacientes com talassemia, tem demonstrado importância prognóstica.

Introduction: Iron induced cardiomyophathy is well documented in patients with thalassemia. Conventional echocardiogram associated with new technologies has provided parameters for early detection of changes in left ventricular function. Case report: Woman, 50 years old, asymptomatic, diagnosed with thalassemia, shows normal conventional echocardiogram and tissue Doppler parameters but altered torsion and rotation parameters using speckle tracking. Comments: Early echocardiographic findings using speckle tracking in patients with thalassemia is important and may improve prognosis in these patients.

Amiloidose cardíaca: relato de caso / Cardiac amyloidosis: case report

Introdução: Amiloidose cardíaca é uma doença rara. Pode ser consequência de qualquer amiloidose sistêmica, principalmente, quando essa for do tipo primária. Relato do caso: Mulher, 64 anos, diabética, hipertensa, internada, há um mês, com anasarca, distensão abdominal, hepatoesplenomegalia, emagrecimento de 30 quilos em dois anos. O ecocardiograma transtorácico demonstrou: hipertrofia concêntrica importante de VE, insuficiência mitral moderada, AE com dilatação moderada, hipertensão pulmonar discreta, EP: 5%, FE: 51%. Aspecto granuloso sugerindo infiltração amilóide. Comentários: O achado ecocardiográfico da doença é de miocardiopatia restritiva com tamanho ventricular e função sistólica normais e evidência de enrijecimento diastólico patológico.

Colecistite acalculosa complicada em pacientews com endomiocardiofibrose / Acalculous cholecystitis in a patient complicated by endomyocardial fibrosis

Relata-se o caso de paciente jovem, do sexo feminino, com quadro clínico de colecistite acalculosa e concomitante endomiocardiofibrose biventricular até então não diagnosticada. A relação entre as duas doenças é discutida, questionando a possibilidade da eosinofilia e da insuficiência cardíaca como fatores etiopatogênicos ou agravantes a ambas as entidades. A paciente evoluiu com morte de causa indeterminada.

Patologia do bloqueio atrioventricular na cardiomiopatia por depósito de desmina / Atrioventricular block pathology in cardiomyopathy by desmin deposition / Patología de bloqueo auriculoventricular en la miocardiopatía por depósito de desmina

Geralmente, a cardiomiopatia restritiva por deposição de desmina é caracterizada pela restrição ao enchimento diastólico ventricular e por diferentes graus de bloqueio atrioventricular (BAV). Neste relato, são descritas as alterações anatomopatológicas do sistema de condução cardíaco relacionadas ao BAV. O nó sinusal, o nó compacto e o feixe penetrante (feixe de His) não apresentavam anormalidades, entretanto, havia extensa fibrose das porções terminais do feixe ramificante e do início dos feixes esquerdo e direito, no topo do septo ventricular. A patogenia dessa substituição fibrosa é provavelmente a mesma que origina a extensa fibrose do miocárdio ventricular contrátil, e permanece por ser elucidada.

Generally, restrictive cardiomyopathy due to desmin deposition is characterized by restriction to ventricular diastolic filling and different degrees of atrioventricular block (AVB). In this report, we describe the pathological changes of the cardiac conduction system related to AVB. The sinus node, the compact node, and the penetrating bundle (bundle of His) had no abnormalities, however, there was extensive fibrosis of the terminal portions of the branching bundle and the beginning of the left and right bundles at the top of the ventricular septum. The pathogenesis of this fibrous replacement is probably the same that leads to extensive fibrosis of the working ventricular myocardium, and remains to be elucidated.

En general, la miocardiopatía restrictiva, debido a la deposición de desmina se caracteriza por la restricción de llenado diastólico ventricular y por los distintos grados de bloqueo auriculoventricular (BAV). En este informe, se describen los cambios anatómicos y patológicos del sistema de conducción cardiaco relacionado con BAV. El nodo sinusal, el nodo compacto y haz penetrante (haz de His) no tuvo alteraciones, sin embargo, había fibrosis extensa de las porciones terminales del haz en porción ramificante y del comienzo de los haces izquierda y derecha, en la parte superior del tabique ventricular. La patogenia de esta sustitución fibrosa es probablemente la misma que origina la fibrosis extensa del miocardio ventricular contráctil, y queda por dilucidar.

Endomiocardiofibrose como causa rara de insuficiência mitral: relato de caso e revisão da literatura / Endomyocardial fibrosis as a rare cause of mitral insufficiency: case study and literature review

Paciente M.B.L., feminina, 62 anos, portadora de insuficiência cardíaca prévia (etiologia indefinida), apresentou-se agudamente com dispneia aos esforços e déficit neurológico súbito. O ecocardiograma evidenciou insuficiência mitral moderada e obliteração infiltrativado ventrículo esquerdo. Realizou-se ventriculografia, confirmando aspecto sugestivo de endomiocardiofibrose. Optou-se por tratamento clínico (atual NYHA I), com boa resposta. Objetiva-se descrever caso clínico incomum e aspectos gerais desta entidade de acordo com as mais recentes atualizações.

Case study of a female patient, 62 years old, with prior heart failure (etiology not defined) presenting dyspnea acutely on exertion, and sudden neurological deficit. An echocardiogram showed moderate mitral failure and left ventricular infiltrative obliteration. Ventriculography confirmed an appearance suggestive of endomyocardial fibrosis. Medical treatment (current NYHA I) was selected, with good response. The intention is to present a clinical study of an unusual case with general aspects of this entity according to the latest updates.

Diagnóstico diferencial entre cardiomiopatia restritiva e pericardite constrictiva: [revisão] / Differencial diagnosis between restrictive cardiomyopathy and constrictive pericarditis: [review]

O diagnóstico diferencial entre as cardiomiopatias restritivas (CR) e a pericardite constrictiva (PC) é fundamental para o manuseio adequado de pacientes com síndrome restritiva (SR). A diferenciação entre as doenças deve ser embasada nas características anatomopatológicas e fisiopatológicas peculiares a cada afecção. Entretanto, um número expressivo de pacientes com PC tem o miocárdio comprometido. A introdução de novas técnicas da ecocardiografia (Eco) traz a perspectiva de identificação da PC, nessas condições...

Miocardiopatias restritivas / Restrictive cardiomyopathies

As miocardiopatias restritivas constituem um grupo heterogêneo de doenças que acometem o músculo cardíaco que tem em comum os sinais e sintomas de insuficiência cardíaca congestiva. Disfunção diastólica com função sistólica preservada é, com frequência única anormalidade ecocardiográfia que pode ser observada, embora a disfunção sistólica e espessamento das paredes possam também ser uma parte integral de algumas patologias específicas, particularmente em casos mais avançados, tais como a infiltração amiloide do coração e hemocromatose. De longe, a maioria das cardiopatias restritivas é secundária as desordens sistêmicas tais como amioloidose, hemocromatose, sarcoidose, esclerodermia, doenças de depósios, síndrome hipereosinofilica e endomiocardiofibrose. Bem mais rara é a miocardiopatia restritiva idiopática, diagnóstico realizado na ausência de doença sistêmica, através de biópsia ou necropsia. O diagnóstico da miocardiopatia restritiva é baseado em história clínica, examo físico, eletrocardiograma, radiografia de tórax, ecocardiografia, ressonância nuclear magnética e biópsia emdomiocárdica. Devido à sua grande disponibilidade, o ecocardiograma é provavelmente o exame mais importante para investigar e detectar a disfunção ventricular esquerda, deve ser realizado precocemente e por operador familiarizado com a grande variedade de etiologias. Finalmente o diagnóstico diferencial com pericardite constritiva é necessário.

Restrictive cardiomyopathies constitute a heterogeneous group of heart muscle conditions that all have, in common, the symptoms of heart failure. Diastolic dysfunction with preserved systolic function is often the only echocardiography abnormality that may be noted, although systolic dysfunction may also be a complete part of some specific pathologies, particularly in the most advanced cases such as amyloid infiltration of the heart and hemochromatosis. By far, the majority of restrictive cardiomyopathy are secondary to a systemic disorder such as amyloidosis, sarcoidosis, scleroderma, hemochromatosis, eosinophilic heart disease or endomyocardial fibrosis. The most uncommon diagnosis of idiopathic restrictive cardiomyopathy is supported only by the absence of specific pathology on either endomyocardial biopsies or at post-mortem. Restrictive cardiomyopathy is diagnosed based on clinical data, physical examination, electrocardiogram, chest X-ray, echocardiography, and magnetic resonance imaging and endomyocardil biopsy. With its broad availability, echocardiography is probably the most Important investigation to Identify the left ventricular dysfunction and should be performed early and by groups that are familiar with the broad variety of etiologies. Finally, the deferential diagnosis from constrictive pericarditis may be necessary.

Miocardiopatía restrictiva y comunicación interauricular en un paciente con esclerodermia / Restrictive cardiomyopathy and atrial septal defect in a patient with scleroderma

Se presentó un paciente con esclerodermia que se diagnosticó a partir de las manifestaciones cardiovasculares de la enfermedad: palpitaciones, disnea de esfuerzo, inflamación de manos y pies e incluso la cara. Clínicamente se manifestó fenómeno de Raynaud y litiasis renal. Eléctricamente, fibrilación auricular de respuesta rápida y por la ecocardiogiografia, patrón de miocardiopatia restrictiva, hipertensión pulmonar y comunicación interauricular tipo fosa oval

A patient was reported with a diagnosis of scleroderma based on the cardiovascular manifestations of the disease: palpitation, exertional dyspnea, swelling of the hands and feet and even the face. Clinical manifestations were Raynaud's phenomenon and renal lithiasis. Electrically, rapid response atrial fibrillation, and ecocardiogiographically, a pattern of restrictive cardiomyopathy, pulmonary hypertension and fossa ovalis atrial septal defect

Cardiac amyloidosis.

We present a 54 year old male who presented with congestive cardiac failure and was diagnosed as restrictive cardiomyopathy with mild mitral regurgitation on 2D echocardiography. Cardiac amyloidosis was diagnosed in view of renal biopsy revealing amyloid deposition. Patient did not have any obvious etiology for secondary amyloidosis.

Cardiac diseases as a risk factor for stroke in Saudi children

To ascertain the role of cardiac diseases as a risk factor for stroke in a cohort of Saudi children who were evaluated in a retrospective and prospective study. Children with cardiac diseases were identified from within a cohort of 104 Saudi children who presented with stroke. They were seen as inpatients in the Pediatric Wards or evaluated at the Outpatient Clinics of the Division of Pediatric Neurology [DPN], and the Division of Pediatric Cardiology at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. A comprehensive form for clinical, neuroimaging, neurophysiological and laboratory data retrieval was designed and completed for each patient. Cardiac evaluation included 12-lead ECG and serial echocardiograms. Cardiac catheterization and 24-hour ambulatory ECG [Holter] were conducted on clinical discretion. Cardiac diseases were the underlying risk factor for stroke in 6 [5.8%] of the 104 children [aged one month to 12 years]. The patients [4 males and 2 females] were evaluated at the DPN at a mean age of 5.3 years [range = 1 - 8 years; median 6.5 years]. Onset of stroke was at a mean age of 34 months [range = 4 months - 8 years; median = 30 months]. Five patients had stroke in association with congenital heart disease [CHD], whereas the sixth had restrictive cardiomyopathy. The identified CHD consisted of membranous ventricular septal defect in a 5-year-old boy who had moyamoya syndrome and sickle cell beta - thalassemia, asymptomatic patent ductus arteriosus [PDA] in a 17-month-old girl, atrioventricular canal defect and PDA in an 8-year-old boy who also had Down syndrome, partial anomalous pulmonary venous drainage in a one-year-old boy, and Tetralogy of Fallot in an 8-year-old boy. The latter patient developed hemiparesis secondary to a septic embolus, which evolved into brain abscess involving the right fronto-parietal region. This was successfully managed surgically. The sixth patient was an 8 1/2 -year-old girl who had hemiparesis and complex partial seizure in association with restrictive cardiomyopathy. Serial echocardiograms depicted resolution of the cardiac abnormalities within 5 years and subsequent normal findings. Cardiac diseases, as a group, constitute a significant risk factor for stroke in Saudi children. Early diagnosis of these diseases is important to prevent further recurrences of stroke, and because some of them are potentially curable.

Miocardiopatía restrictiva: diagnóstico mediante la biopsia endomiocárdica / Myocardiopathy restrictive. diagnostic by biopsy endomiocardic

Se presenta los resultados de un estudio sobre la correlación clínico- histopatológica en 12 casos de miocrdiopatía restrictiva a quienes se les practicó biopsia endomiocárdica. En 7 pacientes con diagnóstico clínico de fibrosis endomiocárdica, los hallazgos de la biopsia endomiocárdica fueron confirmatorias (4/7) y no concluyentes en 3/7. En 4 pacientes con diagnóstico clínico de miocardiopatía restrictiva idiopática, los hallazgos inespecíficos (fibrosis intersticial, hipertrofia celular) fueron contributorios para el diagnóstico según los criterios establecidos por expertos internacionales. En un caso de amiloidosis primaria senil se confirmó el diagnóstico clínico. Para el estudio de las biopsias endomiocárdicas se aplicó la clasificación actual de las miocardiopatías, la cual incluye la miocardiopatía restrictiva idiopática. Se discuten la nomenclatura y criterios de diagnóstico de los diferentes tipos de miocardiopatía restrictiva

Restrictive Cardiomyopathy in a Patient with Extrahepatic Biliary Atresia

The most commonly associated anomalies in patients with extrahepatic biliary atresia are cardiovascular, digestive and splenic defects. Of the cardiovascular anomalies, there are very few reports of biliary atresia with cardiomyopathy. We report the first case of a child with extrahepatic biliary atresia and restrictive cardiomyopathy. The patient was a 13-month-old boy diagnosed with extrahepatic biliary atresia at the age of 2 months, when he underwent laparotomy for definite diagnosis.Hepatic portoenterostomy was performed after confirmative cholangiogram. Recently, he developed severe cough and dyspnea, and his respiratory symptoms worsened. Chest radiograph showed cardiomegaly. Two- dimensional echocardiography showed marked biatrial enlargement. On M- mode echocardiogram, a slight increase in left ventricular dimension was seen in early diastole with a relatively good left ventricular function. Mitral inflow Doppler tracing showed an increased E-velocity (1.1 m/sec) with decreased deceleration time (75 m/sec), and increased E/A ratio (0.33). He was diagnosed as having restrictive cardiomyopathy with characteristic echocardiographic features.