Reporte de caso: enfermedad de Fabry en un adulto con enfermedad renal crónica y síntomas sistémicos característicos / A case report: Fabry disease in an adult with chronic kidney disease and characteristic systemic symptoms / Relato de um caso: doença de Fabry em um adulto com doença renal crônica e sintomas sistémicos característicos

Se presenta el caso de un paciente de sexo masculino, de 62 años, con antecedentes familiares de cardiopatía y enfermedad renal, y antecedentes personales de enfermedad renal crónica severa, por la que recibió trasplante renal. Es enviado a consulta cardiológica por dolores torácicos atípicos y episodios de hipotensión sintomática, se constata en el ecocardiograma: hipertrofia ventricular izquierda concéntrica y deformación miocárdica longitudinal del ventrículo izquierdo patológica. La resonancia magnética cardíaca encuentra un patrón de realce tardío sugestivo de enfermedad de Fabry, diagnóstico que se confirma con dosificación enzimática y estudio genético. Recibe tratamiento específico con una buena respuesta inicial. Esta es una enfermedad sistémica metabólica congénita en la que el diagnóstico y el tratamiento específico se realiza en la edad adulta.

It is presented a 62-year-old male patient with a family history of heart and kidney disease, and a personal history of chronic kidney disease, for which he received a kidney transplant. He was sent to the cardiology department due to atypical chest pain and episodes of symptomatic hypotension. The echocardiogram revealed: concentric left ventricular hypertrophy and pathological longitudinal myocardial deformation of the left ventricle. Cardiac magnetic resonance finds a pattern of late enhancement suggestive of Fabry disease, a diagnosis that is confirmed with enzyme dosage and genetic study. He receives specific treatment with a good initial response. This is a congenital metabolic systemic disease in which the diagnosis and specific treatment is carried out in adulthood.

Se apresenta o caso de um paciente do sexo masculino, 62 anos, com histórico familiar de cardiopatia e doença renal e histórico pessoal de doença renal crônica grave, para o qual recebeu transplante de rim. Foi encaminhado ao serviço de cardiologia por dor torácica atípica e episódios de hipotensão sintomática. O ecocardiograma revelou: hipertrofia ventricular esquerda concêntrica e deformação miocárdica longitudinal patológica do ventrículo esquerdo. A ressonância magnética cardíaca encontra um padrão de realce tardio sugestivo de doença de Fabry, diagnóstico confirmado com dosagem enzimática e estudo genético. Recebe tratamento específico com boa resposta inicial. Tratase de uma doença sistêmica metabólica congênita em que o diagnóstico e o tratamento específico são realizados na idade adulta.

Resonancia magnética cardíaca en el seguimiento alejado de pacientes con tetralogía de Fallot / Cardiac Magnetic Resonance in long term follow-up of Tetralogy of Fallot

INTRODUCCIÓN: La tetralogía de Fallot (TF) es la cardiopatía congénita cianótica más frecuente. La insuficiencia pulmonar (IP) y dilatación del ventrículo derecho (VD) son las complicaciones más frecuentes a largo plazo. La resonancia magnética cardiaca (RMC) es el "gold standard" para la evaluación del VD. OBJETIVO: Analizar la información obtenida de las RMC en el seguimiento de pacientes con TF. PACIENTES Y MÉTODO: Se incluyeron RMC realizadas entre 2007 y 2012 a pacientes con TF, reparados con parche transanular (PTA) o ampliación infundibular (AInf) y sin recambio valvular pulmonar (RVP). La fracción de regurgitación pulmonar (FRP), el volumen y función ventricular fueron evaluados. RESULTADOS: Se realizaron 122 RMC a 114 pacientes. Edad promedio al examen 15,4 ± 7,4 años. 53,3% presentó IP severa (> 40%). La media del volumen de fin de diástole del VD (VFDVD) fue 157,3 ± 38,6 ml/m2, fin de sístole (VFSVD) de 85,3 ± 27 ml/m2 y fracción de eyección (FEVD) 46,4 ± 7,1%. 48,4% presentaba un VFDVD mayor de 150 ml/m2 y el 32,8% mayor a 170 ml/ m2. El PTA se relacionó con mayores volúmenes de VD que la AInf. VFDVD mayor a 170 ml/m2 mostraron peor FEVD (FEVD 47,9 ± 7% vs 43,2 ± 6,4%, p < 0,01). DISCUSIÓN: Casi la mitad mostró una significativa dilatación del VD demostrando que la indicación de RMC es tardía en el seguimiento. El PTA se asoció con mayores VFDVD y VFSVD pero no a peor FEVD.

INTRODUCCIÓN: Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart disease. Pulmonary regurgitation (PR) and right ventricle (RV) enlargement and dysfunction are the most common long-term complications. Cardiac magnetic resonance (CMR) is the gold standard for RV evaluation. OBJECTIVE: To analyze CMR results in the follow-up of TOF patients. PATIENTS AND METHOD: All CMR performed between 2007 and 2012 in TOF patients with transannular patch (TAP) repair or infundibular widening, and without pulmonary valve replacement (PVR) were included. Pulmonary regurgitant fraction (PRF), ventricular end-diastolic (EDV) and end-systolic volume (ESV), and ejection fraction (EF) were examined. RESULTS: 122 CMR were performed in 114 patients. Average age at CMR was 15.4±7.4 years. 53.3% of them presented severe PR (> 40%). RVEDV was 157.3 ± 38.6 ml/m2, RVESV was 85.3 ± 27 ml/m2 and RVEF was 46.4 ± 7.1%. RVEDV was > 150 ml/ m2 in 48.4% and > 170 ml/m2 in 32.8% of patients. Patients with TAP showed larger RV volumes compared with those with infundibular widening. RVEDV > 170 ml/m2 showed worse RVEF that those with lower RVEDV (47.9 ± 7% vs 43.2 ± 6.4%, p < 0.01). CONCLUSION: Almost half of the pa tients showed significant RV enlargement, demonstrating that the indication of CMR is late in their follow-up. TAP was associated with higher RVEDV and RVESV, but no worse RVEF.

Hipertrofia cardíaca esquerda e direita em necropsias de hipertensos / Left and right ventricular hypertrophy at autopsy of hypertensive individuals

OBJETIVO: Medir a espessura ventricular direita e esquerda em falecidos com história de hipertensão arterial, submetidos a necropsias clínicas. MÉTODOS: Foram selecionados 90 casos do Serviço de Verificação de Óbitos de Recife -PE, de ambos os sexos, com história de hipertensão arterial essencial, com relação à espessura das paredes cardíacas, além da correlação com outros achados de necropsia e informes clínicos. RESULTADOS: Observouse associação significativa entre a presença de hipertrofia ventricular esquerda (HVE) e direita (HVD), e de cardiopatia hipertensiva grave e HVD. Houve predomínio da HVD e HVE em homens, na faixa etária dos 60-79 anos, com maior prevalência nas etnias parda e negra, e naqueles com estado nutricional adequado ou com sobrepeso e em obesos. CONCLUSÃO: Observou-se que a presença de HVD relaciona-se com HVE, sugerindo que há fatores patogênicos semelhantes envolvidos no desenvolvimento da hipertrofia bilateral. A HVD parece associar-se à doença cardíaca mais grave, podendo, a partir de outros estudos, ser considerada novo fator prognóstico na avaliação dos pacientes hipertensos.

OBJECTIVE: To measure the right and left ventricular thickness in deceased individuals with a history of hypertension submitted to clinical autopsies. METHODS: We selected 90 cases from the Death Verification Service of the city of Recife, state of Pernambuco, Brazil, of both sexes, with a history of essential arterial hypertension related to heart wall thickness, in addition to correlation with autopsy findings and other clinical reports. RESULTS: There was a significant association between the presence of left ventricular hypertrophy (LVH) and right ventricular hypertrophy (RVH) and between severe hypertensive cardiomyopathy and RVH. There was a predominance of RVH and LVH in men aged 60-79 years and a higher prevalence in the Brazilian mulatto and Black ethnic groups and in those with adequate nutritional status or overweight and obese individuals. CONCLUSION: It was observed that the presence of RVH was related to LVH, suggesting that there are similar pathogenic factors involved in the development of bilateral hypertrophy. The RVH seems to be associated with more severe heart disease and may, based on other studies, be considered as a new prognostic factor in the evaluation of hypertensive patients.

Isolated right sided anomalous pulmonary venous connection associated with significant right ventricular enlargement and intact interatrial septum

Partial anomalous pulmonary venous connection [PAPVC] is a very rare congenital heart disease where one or more of the pulmonary veins are connected to the venous circulation. Although initially suspected with inexplicable right ventricular enlargement on transthoracic echocardiography, other modalities such as transesophageal echocardiography, CT angiography or cardiac Magnetic resonance [CMR] imaging are able to diagnosis the anatomical abnormalities. We present a 29-year-old female with moderate right ventricular enlargement and isolated right upper and middle pulmonary vein anomalous return to superior vena cava

Modelo experimental de bandagem ajustável do tronco pulmonar para preparo rápido do ventrículo / Experimental model of adjustable pulmonary trunk banding for rapid prepare of the ventricle

OBJETIVO: Um dispositivo de bandagem do tronco pulmonar (TP) com ajuste percutâneo foi desenvolvido com o objetivo de induzir a hipertrofia rápida do ventrículo subpulmonar. MATERIAL E MÉTODOS: Consiste de um manguito de silicone insuflável percutaneamente, através de um botão de silicone auto-selante. Os corações de 7 cabritos jovens (peso médio: 8,7 kg) foram submetidos à sobrecarga sistólica imposta pelo dispositivo e avaliados sob os aspectos hemodinâmicos, ecocardiográficos e morfológicos. Foram extraídas biópsias basais do miocárdio do ventrículo direito (VD) para análise microscópica (perímetro e área do miócito). O dispositivo foi implantado no TP. As pressões do VD, TP e aorta foram monitorizadas. Após convalescença, foi iniciado o protocolo de insuflação do dispositivo de bandagem do TP. Foi injetada água destilada no botão auto-selante (via percutânea), até que a pressão sistólica do VD atingisse 70 por cento da pressão sistólica do VE. As avaliações ecocardiográfica e hemodinâmica foram realizadas a cada 24 horas. A sobrecarga sistólica do VD foi mantida por um período de 96 horas, com insuflações progressivas no limite máximo tolerado, a cada 24 horas. Após esse período, os animais foram sacrificados para análise morfológica dos corações. Outros 9 cabritos (peso médio: 7,7 kg) foram utilizados como grupo controle, para análise do peso do VD. RESULTADOS: Após 96 horas de sobrecarga sistólica do VD, foi observado um aumento do gradiente sistólico VD/TP de 10,1 + ou - 4,3 mmHg para 60,0 + ou - 11,0 mmHg e da pressão sistólica no VD de 22,4 + ou - 4,1 mmHg para 71,0 + ou - 10,0 mmHg (p<0,0001). O ecocardiograma revelou aumento da espessura muscular do VD, de 4,4 + ou - 0,5 mm para 7,3 + ou - 1,7 mm (p=0,001). Quando comparado ao grupo controle, houve um ganho de peso de 74 por cento do VD submetido à sobrecarga sistólica (p<0,0001). À microscopia óptica, foi observado aumento de 27 por cento no perímetro e de 69 por cento na área dos miócitos (p=0,0001). CONCLUSÕES: O dispositivo proposto neste trabalho é efetivo e facilmente ajustável por via percutânea, possibilitando a hipertrofia do ventrículo subpulmonar em 96 horas de sobrecarga sistólica. A melhora na ajustabilidade da bandagem do TP poderá permitir melhores resultados da operação de Jatene em dois estágios, nos pacientes com transposição das grandes artérias

Right ventricular affection in essential hypertension

The present study was designed to assess right ventricular affection in systemic hypertension. This study included 60 males subjects, 20 healthy subjects as a control group; 20 hypertensives with mild or no LVH and 20 hypertensives with marked LVH. Thorough clinical examination, 12-lead surface ECG, chest X-ray and Echo-Doppler evaluation of systolic and diastolic functions of both left and right ventricles were done for each subject. This study showed that the thickness of right ventricular anterior wall was increased in the 2 hypertensive groups. Alteration in the systolic function of the right ventricle was represented by the increase in pulmonary maximum velocity [V-wax], and pulmonary ratio of [V[2]/AT]. Changes in right ventricular diastolic function were represented by augmentation of late filling of the right ventricle as indicated by increased tricuspid peak velocity A and time velocity integral of the A wave, In addition, early filling of the right ventricle in patients with less LVH was augmented as indicated by the increase in tricuspid peak velocity E and Peak filling rate normalised to stroke volume. Moreover, A-wave acceleration [AIAT-A] was increased in the 2 hypertensive groups and it was found to be the most sensitive parameter that can detect diastolic dysfunction in hypertensive patients. A direct significant correlation was found between both left and right systolic and diastolic indices in the hypertensives. In conclusion, the present study showed alteration in the structure and functions [systolic and diastolic] of the right ventricle in patients with essential hypertension with or without LVH. This RV affection seems not to be due to PH++ secondary to L.V.F. and it is not related to extent of LVH_.hence, some systemic factors may be involved in its pathogenesis

Total correction of tetralogy of fallot

Records of 165 patients who underwent total correction for Tetralogy of Fallot were analysed for early postoperative morbidity and mortality in the Intensive Care Unit. Eighty three patients [50.3%] had one or more pulmonary complications; 18 [10.9%] developed an infection; 10 [6%] developed acute renal failure requiring peritoneal dialysis; 9 [5.5%] required Total Parenteral Nutrition; there was no intraoperative death, but 6 patients [3.5%] died in the Intensive Care Unit, 4 of them aged 24 months [Group II]. Patients with a bypass time > 120 minutes had significantly more pulmonary complications [63.8%], compared to those < = 120 minutes [34.4%]; the longer bypass time group had significantly more pulmonary complications [78%] in patients aged < = 24 months at surgery compared to those aged > 24 months [50%]