Miocardiopatía Restrictiva: Presentación de un caso en pediatría Reporte de Caso / Restrictive Cardiomyopathy: Presentation of a case in pediatrics

Introducción: La miocardiopatía restrictiva (MR) es una entidad poco frecuente y de mal pronóstico en pacientes pediátricos. Se considera la variante menos habitual dentro de las miocardiopatías y en la mayoría de los casos su etiología es desconocida. Tiene un pronóstico grave, salvo que pueda llevarse a cabo un trasplante cardíaco. Caso: Niño de 1 año de edad, con antecedentes de infecciones respiratorias y disnea con la succión del seno materno. Fue ingresado con disnea, cianosis y edema. Al examen físico se describe la presencia de un soplo sistólico grado IV/VI en el borde esternal izquierdo. La frecuencia respiratoria de 60 por minuto, con presencia de tiraje intercostal, subcostal y supraesternal. Con hepatomegalia. Evolución: Laboratorios: presencia de leucocitosis y anemia normocítica normocrómica. En la Rx de tórax cardiomegalia grado IV. En ecocardiograma crecimiento auricular, presencia de foramen oval permeable. La función sistólica conservada con un patrón de relajación restrictivo e hipertensión pulmonar (47 mmHg). La resonancia magnética de corazón reveló el crecimiento de cavidades auriculares; con espesor del miocardio normal. Se manejó como miocardiopatía restrictiva, con furosemida, espironolactona y antiagregantes plaquetarios. Se dio el alta con iguales indicaciones a consulta externa. Conclusión: Los estudios de gabinete como la radiografía y el electrocardiograma pueden arrojar datos importantes para el diagnóstico. El ecocardiograma sigue siendo el mejor estudio para el diagnóstico. El uso de mediciones funcionales como doppler tisular puede ayudar a evidenciar falla diastólica temprana

Introduction: Restrictive cardiomyopathy (RM) is a rare entity with a poor prognosis in pediatric patients. It is considered the least common variant within cardiomyopathies and in most cases its etiology is unknown. He has a dire prognosis, unless a heart transplant can be done. Case: 1-year-old boy, with a history of respiratory infections and dyspnea with suctioning of the mother's breast. He was admitted with dyspnea, cyanosis, and edema. Physical examination describes the presence of a grade IV / VI systolic murmur at the left sternal border. The respiratory rate of 60 per minute, with the presence of intercostal, subcostal and suprasternal pulling. With hepatomegaly. Evolution: Laboratories: presence of leukocytosis and normochromic normocytic anemia. In the chest X-ray cardiomegaly grade IV. In echocardiogram atrial growth, presence of patent foramen ovale. Systolic function preserved with a restrictive relaxation pattern and pulmonary hypertension (47 mmHg). Magnetic resonance imaging of the heart revealed enlargement of the atrial chambers; with normal myocardial thickness. It was managed as restrictive cardiomyopathy, with furosemide, spironolactone, and antiplatelet agents. Outpatient consultation was discharged with the same indications. Conclusion: Cabinet studies such as radiography and electrocardiogram can provide important data for diagnosis. The echocardiogram remains the best study for diagnosis. The use of functional measurements such as tissue Doppler can help to show early diastolic failure

Value of left ventricular myocardial strain derived from cardiac magnetic resonance tissue tracking on differentiating constrictive pericarditis from restrictive cardiomyopathy / 中华心血管病杂志

Objective: To compare left ventricular myocardial mechanics detected by cardiac magnetic resonance tissue tracking(CMR-TT) between patients with constrictive pericarditis(CP) and restrictive cardiomyopathy(RCM),and see if those can be used to differentiate CP from RCM patients. Methods: A total of 23 patients with CP, 20 patients with RCM, who hospitalized in Beijing Anzhen Hospital from January 2014 to April 2019 were included in this study and 25 healthy subjects served as control group, all subjects underwent cardiac magnetic resonance examination. Myocardial mechanics were evaluated by 2-dimensional(2D) and 3-dimensional(3D) CMR-TT in terms of global longitudinal strain(GLS), circumferential strain(GCS), radial strain(GRS) and the lateral wall strain to septal wall strain ratio(lateral/septal ratio) of basal, mid-cavity and apical. The diagnostic area under the receiver operating characteristic curve (ROC) was evaluated for differentiating CP from RCM. Results: Age, sex and heart rate were similar between CP and RCM patients(all P>0.05). 2D-GLS, 3D-GLS, GCS and GRS in CP and RCM groups were significantly lower than those in normal control group(all P<0.05).3D-GLS value was significantly lower in RCM patients than in CP patients(P<0.05), the area under the curve (AUC)=0.787(sensitivity 80%, specificity 78%). 3D-GCS was significantly lower in CP group than in RCM group(P<0.05), the AUC=0.737(sensitivity 80%, specificity 65%). However, there was no significant difference between CP and RCM in 3D-GRS(P>0.05). Compared with RCM, the circumferential and radial lateral/septal ratios of the basal were significantly lower in CP group than in RCM group(both P<0.05), AUC=0.737(sensitivity 70%, specificity 83%) and 0.737 (sensitivity 60%, specificity 87%), respectively. The left ventricular myocardial mechanics strain curve of the CP,RCM and normal control were different. The CP patients presented as " rapidly down-a platform" form, the RCM presented as "slowly down" form, and normal control presented as "rapidly down" form. Conclusion: Evaluating the differences in the diastolic process of left ventricular myocardium and left ventricular myocardial mechanics strain curve is helpful to differentiate CP from RCM patients.

Structural and Functional Feature Comparison Between Dilated Phenotype and Restrictive Phenotype of Hypertrophic Cardiomyopathy Patients With Severe Heart Failure / 中国循环杂志

Objectives:To compare the structural and functional features between dilated phenotype and restrictive phenotype of hypertrophic cardiomyopathy patients with severe heart failure. Methods:We retrospectively enrolled the hypertrophic cardiomyopathy patients with severe heart failure (NYHA classⅢ/Ⅳ) who were admitted in our hospital during January 2010 to June 2017. The structural and functional characteristics between dilated phenotype and restrictive phenotype of hypertrophic cardiomyopathy patients with severe heart failure were compared. Results:One hundred and seventy-six hypertrophic cardiomyopathy patients with heart failure were enrolled, including 112 patients with dilated phenotype (dilated group) and 64 patients with restrictive phenotype (restrictive group). Echocardiographic examination showed that LVEDd was larger[(66.9±12.6) mm vs (44.6±10.1) mm,P＜0.001],the maximum left ventricular wall thickness (MLVWT) was thinner(13.1±3.1)mm vs (16.3±3.9)mm, P＜0.001], the proportion of patients with a thinner MLVWT was higher[26.8%(30/112) vs 6.3%(4/64),P=0.003], LVEF was lower ([29.7±10.1]% vs [53.0±18.2]%, P=0.006),the proportion of patients with a LVEF＜50% was higher(96.4%[108/112] vs 14.1%[9/64], P＜0.001),the proportion of patients with both left and right atrium enlarged was lower (42.9%[48/112] vs 100%[64/64], P＜0.001), and the proportion of patients with tricuspid insufficiency was also lower in the dilated group (55.4%[62/112] vs 71.9%[46/64], P=0.031) compared with the restrictive group. Cardiovascular magnetic resonance imaging examination evidenced that the proportion of patients with local ventricular septum hypertrophy was higher[78.7%(48/61) vs 9.4%(3/32), P＜0.001], the proportion of patients with extensive areas of transmural post-contrast delayed hyper-enhancement within septal and left ventricular free wall myocardium was higher(90.2%[55/61] vs 65.6%[21/32], P=0.013)in dilated group compared with the restrictive group. However, the proportion of patients with limited areas of transmural post-contrast delayed hyper-enhancement within interventricular septum or apex is less than that in the restricted group (9.8% [6/61] vs 34.4% [11/32], P=0.026). The maximum ventricular wall thickness was also less than that of the restrictive group ([15.8 ± 3.1] mm vs [19.8±3.4] mm, P=0.001). Conclusions:There are many differences in characteristics of cardiac structure and function between dilated phenotype and restrictive phenotype in hypertrophic cardiomyopathy patients with severe heart failure, such as the size of ventricular and atrium, the ventricular wall thickness, location and area of ventricular hypertrophy, LVEF, prevalence of mitral valve insufficiency and tricuspid insufficiency, myocardial fibrosis. The difference in location and area of ventricular hypertrophy and myocardial fibrosis may be the fundamental changes leading to these two phenotypes of hypertrophic cardiomyopathy.

Clinical Feature Analysis for Heart Failure in 32 Hypertrophic Cardiomyopathy Patients Presented as Restrictive Cardiomyopathy / 中国循环杂志

Objective: To analyze the clinical features for heart failure (HF) in hypertrophic cardiomyopathy patients presented as restrictive cardiomyopathy. Methods: We retrospectively studied 32 hypertrophic cardiomyopathy combining HF patients with NYHA grade III-IV presented as restrictive cardiomyopathy and summarized their clinical features with the outcomes of in-hospital management. Results: Echocardiography found restrictive cardiomyopathy changes in all 32 severe hypertrophic cardiomyopathy combining HF patients as both atriums were enlarged and the size of left ventricle was normal; 84.4％ patients with normal LVEF (>50％) and 15.6％ with LVEF<50％; 37.5％ patients with enlarged right ventricle. HF history was from 10 days to 35 years at the mean of 8.3 years. 75％ patients appeared whole heart failure, the main symptoms were dyspnea, edema, some patients had syncope and angina. There were 8 patients with respiratory failure, 2 with cardiac shock, 13 with medium to large amount of pleural effusion and ascites; 90％ patients combining paroxysmal or persistentatrial fibrillation (AF), 8 patients received pacemaker implantation due to slow tachycardia. The in-hospital ventricular tachycardia or ventricular fibrillation occurred in 3 patients, 2 of them were successfully rescued by electrical cardio-version and received implantable cardioverter defibrillator(ICD), 1 died for failed cardio-pulmonary resuscitation; 6 patients had heart transplantation.Conclusion: Severe hypertrophic cardiomyopathy combining HF patients presented as restrictive cardiomyopathy were usually at the late stage in critical condition with various complications even they could have normal size of left ventricle and LVEF, some patients may need heart transplantation.

Characterization of Cardiopulmonary Exercise Testing Variables in Patients with Endomyocardial Fibrosis after Endocardial Resection / Caracterização das Variáveis do Teste de Esforço Cardiopulmonar em Pacientes com Endomiocardiofibrose após Cirurgia de Ressecção Endocárdica

Abstract Background: Endomyocardial fibrosis (EMF) is a rare disease, characterized by diastolic dysfunction which leads to reduced peak oxygen consumption (VO2). Cardiopulmonary exercise testing (CPET) has been proved to be a fundamental tool to identify central and peripheral alterations. However, most studies prioritize peak VO2 as the main variable, leaving aside other important CPET variables that can specify the severity of the disease and guide the clinical treatment. Objective: The aim of this study was to evaluate central and peripheral limitations in symptomatic patients with EMF by different CPET variables. Methods: Twenty-six EMF patients (functional class III, NYHA) were compared with 15 healthy subjects (HS). Functional capacity was evaluated using CPET and diastolic and systolic functions were evaluated by echocardiography. Results: Age and gender were similar between EMF patients and HS. Left ventricular ejection fraction was normal in EMF patients, but decreased compared to HS. Peak heart rate, peak workload, peak VO2, peak oxygen (O2) pulse and peak pulmonary ventilation (VE) were decreased in EMF compared to HS. Also, EMF patients showed increased Δ heart rate /Δ oxygen uptake and Δ oxygen uptake /Δ work rate compared to HS. Conclusion: Determination of the aerobic capacity by noninvasive respiratory gas exchange during incremental exercise provides additional information about the exercise tolerance in patients with EMF. The analysis of different CPET variables is necessary to help us understand more about the central and peripheral alterations cause by both diastolic dysfunction and restrictive pattern.

Resumo Fundamento: A endomiocardiofibrose (EMF) é uma doença rara, caracterizada por disfunção diastólica que leva à redução consumo de oxigênio (VO2) pico. O teste de esforço cardiopulmonar (TECP) tem se mostrado uma ferramenta fundamental na identificação de alterações centrais e periféricas. No entanto, a maioria dos estudos prioriza o VO2 pico como a variável principal, em detrimento de outras importantes variáveis do TECP que poderiam identificar a gravidade da doença e direcionar o tratamento clínico. Objetivo: O objetivo deste estudo foi avaliar limitações centrais e periféricas em pacientes com EMF sintomáticos por meio de variáveis do TECP. Métodos: Vinte e seis pacientes com EMF (classe funcional III, NYHA) foram comparados com 15 indivíduos controle saudáveis (CS). A capacidade funcional foi avaliada por TECP e funções sistólicas e diastólicas por ecocardiografia. Resultados: A idade e o gênero foram similares entre pacientes com EMF e CS. A fração de ejeção do ventrículo esquerdo foi normal em pacientes com EMF, porém diminuída em comparação aos CS. Os picos de frequência cardíaca, carga de trabalho, VO2, pulso de oxigênio (O2) e da ventilação pulmonar (VE) estavam diminuídos em pacientes com EMF em comparação aos CS. Ainda, os pacientes com EMF apresentaram Δ frequência cardíaca /Δ consumo de oxigênio e Δ consumo de oxigênio /Δ taxa de trabalho aumentados em comparação aos CS. Conclusão: A determinação da capacidade aeróbica por troca respiratória não invasiva durante exercício progressivo fornece informações sobre a tolerância ao exercício em pacientes com EMF. É necessária uma análise das diferentes variáveis do TECP para nos ajudar a compreender mais acerca das alterações centrais e periféricas causadas tanto pela disfunção diastólica como pelo padrão restritivo.

Cardiac Amyloidosis and its New Clinical Phenotype: Heart Failure with Preserved Ejection Fraction / Amiloidose Cardíaca e seu Novo Fenótipo Clínico: Insuficiência Cardíaca com Fração de Ejeção Preservada

Abstract Heart failure with preserved ejection fraction (HFpEF) is now an emerging cardiovascular epidemic, being identified as the main phenotype observed in clinical practice. It is more associated with female gender, advanced age and comorbidities such as hypertension, diabetes, obesity and chronic kidney disease. Amyloidosis is a clinical disorder characterized by the deposition of aggregates of insoluble fibrils originating from proteins that exhibit anomalous folding. Recently, pictures of senile amyloidosis have been described in patients with HFpEF, demonstrating the need for clinical cardiologists to investigate this etiology in suspect cases. The clinical suspicion of amyloidosis should be increased in cases of HFPS where the cardio imaging methods are compatible with infiltrative cardiomyopathy. Advances in cardio imaging methods combined with the possibility of performing genetic tests and identification of the type of amyloid material allow the diagnosis to be made. The management of the diagnosed patients can be done in partnership with centers specialized in the study of amyloidosis, which, together with the new technologies, investigate the possibility of organ or bone marrow transplantation and also the involvement of patients in clinical studies that evaluate the action of the new emerging drugs.

Resumo A insuficiência cardíaca com fração de ejeção preservada (ICFEP) é hoje uma epidemia cardiovascular emergente, sendo identificada como o principal fenótipo observado na prática clínica. Está mais associado ao sexo feminino, idade avançada e a comorbidades como hipertensão arterial, diabetes, obesidade e doença renal crônica. A amiloidose é uma desordem clínica caracterizada pelo depósito de agregados de fibrilas insolúveis originadas de proteínas que apresentam dobramento anômalo. Recentemente, têm sido descritos quadros de amiloidose senil em pacientes com ICFEP, demonstrando a necessidade de os cardiologistas clínicos investigarem esta etiologia em casos suspeitos. Deve-se aumentar a suspeição clínica de amiloidose diante dos casos de ICFEP onde os métodos de cardioimagem sejam compatíveis com o quadro de cardiomiopatia infiltrativa. Os avanços nos métodos de cardioimagem aliados à possibilidade de realização de testes genéticos e identificação do tipo do material amiloide permitem a realização do diagnóstico. O manejo dos pacientes diagnosticados pode ser feito em parceria com centros especializados no estudo de amiloidose, que, aliados às novas tecnologias, investigam a possibilidade de transplante de órgãos ou medula óssea e também o envolvimento dos pacientes em estudos clínicos que avaliam a ação das novas drogas emergentes.

Speckle Tracking and Transthyretin Amyloid Cardiomyopathy / Rastreamento de Pontilhados e Cardiomiopatia Amiloidótica por Mutação da Transtirretina

Abstract Background: Amyloidosis is a disease caused by deposits of insoluble fibrils in extracellular spaces. The most common type of familial amyloidosis is mediated by mutation of transthyretin, especially Val30Met. Symptoms and ejection fraction decrease may occur in cardiac amyloidosis only in case of poor prognosis. Myocardial strain detected by two-dimensional speckle tracking echocardiography can indicate changes in myocardial function at early stages of the disease. Objective: To determine the accuracy of left ventricular longitudinal strain by two-dimensional speckle tracking echocardiography in patients with familial amyloidosis caused by Val30Met transthyretin mutation. Methods: Eighteen consecutive patients, carriers of transthyretin mutation, were evaluated by two-dimensional speckle tracking echocardiography, by which myocardial strain curves were obtained, following the American Society of Echocardiography recommendations. Results: Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease. As the three groups were compared by the Mann-Whitney test, we found a statistically significant difference between groups 1 and 2 in the mean longitudinal tension (p=0.01), mean basal longitudinal strain (p=0.014); in mean longitudinal tension and mean longitudinal strain between groups 1 and 3 (p=0.005); and in the ratio of longitudinal strain of apical septum segment to longitudinal strain of basal septum (p=0.041) between groups 2 and 3. Conclusion: Left ventricular longitudinal strain detected by two-dimensional speckle tracking echocardiography is able to diagnose left ventricular dysfunction in early stages of familial amyloidosis caused by transthyretin Val30Met mutation.

Resumo Fundamento: A amiloidose é uma doença de depósito de fibrilas insolúveis nos espaços intercelulares. A forma mais comum de amiloidose familiar é mediada por mutação da transtirretina, sendo a Val30Met a mutação mais frequente. A amiloidose cardíaca só causa sintomas e queda da fração de ejeção em fases tardias quando o prognóstico é pobre. A deformação miocárdica obtida com speckle tracking bidimensional pode detectar alterações da função miocárdica em estágios precoces da doença. Objetivos: Determinar a acurácia da deformação longitudinal do ventrículo esquerdo obtida com speckle tracking bidimensional em um grupo de pacientes com amiloidose familial por mutação da transtirretina Val30Met. Métodos: Foram examinados 18 pacientes consecutivos com a mutação da transtirretina com speckle tracking bidimensional obtendo curvas de deformação miocárdica segundo normas da American Society of Echocardiography. Resultados: Os pacientes foram divididos em três grupos: 1- Val30Met com amiloidose cardíaca; 2- Val30Met com amiloidose extra-cardíaca; 3- Val30Met sem doença aparente. Ao compararmos os três grupos com o teste de Mann-Whitney encontramos diferença estatística significativa entre os grupos 1 e 2 na tensão longitudinal média (p=0,01), deformação longitudinal basal média (p=0,014); entre os grupos 1 e 3 na tensão longitudinal média (p=0,005), deformação longitudinal média (p=0,002); entre os grupos 2 e 3 na relação de deformação longitudinal do septo apical/deformação longitudinal do septo basal (p=0,041). Conclusão: A deformação longitudinal do ventrículo esquerdo obtida com speckle tracking bidimensional é capaz de diagnosticar disfunção do ventrículo esquerdo em fases precoces da amiloidose familial por mutação Val30Met da transtirretina.

Miocardiopatías restrictivas: Valoración por resonancia magnética cardiaca y tomografía multicorte / Restrictive Cardiomyopathies: Evaluation Using Cardiac MRI and Multidetector CT

Las miocardiopatías son condiciones que afectan al miocardio y generan alteración en la función cardiaca. Dentro de las miocardiopatías, el subgrupo de las restrictivas tiene como principal hallazgo la disminución en el llenado ventricular. A continuación se expone una revisión acerca de las miocardiopatías restrictivas, se analizan sus principales causas, y los hallazgos por resonancia magnética cardiaca y por tomografía computarizada. También se incluyen signos por imagen que ayudan a diferenciar las miocardiopatías restrictivas de la pericarditis constrictiva.

Cardiomyopathies are conditions that affect the myocardium and cause alteration in the cardiac function. Within the cardiomyopathies, the restrictive subgroup has as a main finding the decrease in the ventricular filling. In this manuscript we will review the restrictive cardiomyopathies and discuss their main causes, as well as their imaging findings on cardiac magnetic resonance and computed tomography. We will also include imaging signs that helps to differentiate restrictive cardiomyopathies from constrictive pericarditis.

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation

Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Examining the family history revealed that her elder sister had expired due to severe RCMP. Using a next-generation sequencing-based gene panel to analyze the proband, we identified a known TNNI3 gene mutation, c.433C>T, which is predicted to cause an amino acid substitution (p.Arg145Trp) in the highly conserved inhibitory region of the cardiac troponin I protein. Sanger sequencing confirmed that six relatives with RCMP or near-normal phenotypes also carried this mutation. To our knowledge, this is the first genetically confirmed family with diverse phenotypic expression of cardiomyopathies in Korea. Our findings demonstrate familial implications, where a single mutation in a sarcomere protein can cause diverse phenotypic expression of cardiomyopathies.

Value of real-time three-dimensional echocardiography in patients with restrictive cardiomyopathy and constrictive pericardits / 中华超声影像学杂志

Objective To investigate value of real-time three-dimensional echocardiography timingexcursion parametric index and 17 segment volume curves index in patients with restrictive cardiomyopathy and constrictive pericardits.MethodsSeventeen patients with restrictive cardiomyopathy (proven by biopsy) ,six patients with constrictive pericardits (proven by CT or surgical),twenty subjects with normal left ventricular(LV) function were examined by Philips iE33 with X3-1 probe.Results Parameter index of Tmsv 16-SD,Tmsv 12-SD Tmsv 6-SD,Tmsv 16-Dif,Tmsv 12-Dif,Tmsv 6-Dif,Tmsv 16-SD(%) ,Tmsv 12-SD(%),Tmsv 6-SD(%),Tmsv 16-Dif(%),Tmsv 12-Dif(%),Tmsv 6-Dif(%) was significantly higher in patients with restrictive cardiomyopathy than that in subjects with normal LV function(all P ＜0.05).Average and maximum value and minimum of excursion was significantly lower in patients with restrictive cardiomyopathy than that in subjects with normal LV function (all P ＜0.005).Whereas,compare with subjects with normal LV function,the parametric indexes of timing-excursion and 17 segment volume curves were not significantly difference in patients with constrictive pericardits(all P ＞0.05).Conclusions Realtime three-dimensional echocardiography can evaluate and diagnose fastly restrictive cardiomyopathy and constrictive pericardits.

A Case of Chloroquine-Induced Cardiomyopathy That Presented as Sick Sinus Syndrome

A 52-year-old woman with rheumatoid arthritis who had been treated with prednisone and hydroxychloroquine for >12 years presented with chest discomfort and a seizure. She was diagnosed with restrictive cardiomyopathy combined with sick sinus syndrome. A myocardial muscle biopsy was performed to identify the underlying cardiomyopathy, which showed marked muscle fiber hypertrophy, fiber dropout, slightly increased interstitial fibrous connective tissue, and extensive cytoplasmic vacuolization of the myocytes under light microscopy. Electron microscopy of the myocytes demonstrated dense, myeloid, and curvilinear bodies. The diagnosis of hydroxychloroquine-induced cardiomyopathy was made based on the clinical, hemodynamic, and pathologic findings. This is the first case report describing chloroquine-induced cardiomyopathy involving the heart conduction system.

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.

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

JUSTIFICATIVA E OBJETIVOS: A amiloidose cardíaca é uma doença rara e de difícil diagnóstico ocasionada pela deposição de substância amilóide. Este depósito pode levar a distúrbio da condução cardíaca, cardiomiopatia restritiva, baixo débito cardíaco e comprometimentos atriais isolados. O objetivo deste estudo foi descrever o caso de um paciente portador de insuficiência cardíaca direita há 6 meses. RELATO DO CASO: Paciente do sexo masculino, 51 anos, chegou ao setor de emergência do hospital após episódio de síncope. Após realização do eletrocardiograma (ECG) e ecocardiograma (ECO), levantou-se a hipótese de amiloidose cardíaca a qual foi confirmada através da biópsia do endocárdio e coloração vermelho do congo. CONCLUSÃO: A avaliação clínica complementada por ECG e ECO permitiu caracterizar bem a doença e a forma de manifestação. Pacientes com amiloidose cardíaca possuem poucas opções de tratamento e prognóstico reservado.

BACKGROUND AND OBJECTIVES: The cardiac amyloidosis is a rare disease hard to diagnose, it is caused by the deposit of the amyloid substance. This deposit can lead to trouble in the cardiac conduction, restrictive cardiomyopathy, low cardiac output and atrial damage. We report a case about a male patient with right heart failure for 6 months, admitted in the hospital emergency after syncope episode. CASE REPORT: Male patient, 51 years-old. After accomplishment of electrocardiogram (ECG) and echocardiogram (ECO), it was raised the hypothesis of cardiac amyloidosis which was confirmed through endocardium biopsy and congo red staining. CONCLUSION: The clinical evaluation complemented with ECG and ECO allows characterizing well the disease and its manifestation form. Patients with cardiac amyloidosis have few treatment options and adverse prognosis.

Application of color Doppler ultrasonography in differentiating restrictive cardiomyopathy and constrictive pericartiditis / 中华超声影像学杂志

Objective To assess the clinical diagnostic value of color Doppler ultrasogography in restrictive cardiomyopathy and constrictive pericarditis.Methods Observing mitral valvular, tricuspid valvular, pulmonary and hepatic venous flow in 16 cases of restrictive cardiomyopathy (RCM) and 20 cases of constrictive pericardities (CP), getting the spectrum results of above, analysis was made on the spectrum change accompanied with respiration. Twenty cases of normal served as control. Results Both during inspiration and expiration, the maximal peak velocity and time (E M and E T) of mitral and tricuspid valvular in group constrictive pericardities had statistical difference compared with normal group (P

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.