ABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Fabry Disease/diagnostic imaging , Fabry Disease/complications , Fabry Disease/drug therapy , Hypertrophy, Right Ventricular/etiology , Hypertrophy, Right Ventricular/diagnostic imaging , alpha-Galactosidase/therapeutic useABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Postoperative Complications/diagnostic imaging , Tetralogy of Fallot/surgery , Magnetic Resonance Imaging , Hypertrophy, Right Ventricular/diagnostic imaging , Ventricular Dysfunction, Right/diagnostic imaging , Tetralogy of Fallot/diagnostic imaging , Retrospective Studies , Follow-Up Studies , Hypertrophy, Right Ventricular/etiology , Ventricular Dysfunction, Right/etiologyABSTRACT
Two cases of isolated hypertrophic cardiomyopathy of right ventricle without any involvement of interventricular septum or left ventricle are reported. Two cases reported in literature are also reviewed. In these cases symptoms are those of left ventricular hypertrophic obstructive cardiomyopathy. Right ventricular dominance on clinical examination and electrocardiogram and inspiratory increase in intensity of murmur are helpful clues. 2-Dimensional echocardiography with Doppler evaluation can confirm the diagnosis noninvasively.