RESUMO

We present the unusual case of an 8-month-old female with tetralogy of Fallot, coarctation of aorta, and complete presentation of pentalogy of Cantrell. A meta-analysis of 236 cases of Cantrell's syndrome reported in the literature was performed to compare intracardiac findings.

RESUMO

Ventricular septal defect is the most common congenital heart disease in children and is associated with patent ductus arteriosus in 1%-7% of cases. The coexistence of both malformities with hypoplastic aortic arch and aortic coarctation is even rarer. We present the case of a 6-year-old girl referred to our hospital because of dyspnea on feeding, recurrent respiratory infections, poor weight gain, and a heart murmur. The image studies revealed a ventricular septal defect, patent ductus arteriosus, severe hypoplasia of the aortic arch with critical stenosis of the proximal portion, severe dilatation of the pulmonary artery and pulmonary, mitral, tricuspid, and aortic regurgitation. We will discuss the diagnostic approach and treatment in a tertiary reference center for patients with cardiovascular diseases.

RESUMO

Coarctation of the aorta is a rare congenital abnormality, with an incidence of 6-8% of all congenital heart problems. It is usually diagnosed in childhood during routine clinical examination and adults mostly present with hypertension. Various investigations like transthoracic echocardiography, computed tomography, and magnetic resonance angiography can help with diagnosis. Prognosis depends on age at presentation and the severity of coarctation. Treatment options available are open and endovascular repair. Extra-anatomical bypass is the preferred option in cases with unfavorable anatomy. Long term follow up is required post repair due to risk of restenosis and aneurysm formation. Here is a case in which a young female presented with hypertension, was diagnosed with coarctation of the aorta, and was treated a left subclavian artery to descending thoracic aorta bypass. Her postoperative course was uneventful and she had improvement in hypertension.

A coarctação da aorta é uma anomalia congênita rara, com incidência de 6-8% entre todos os problemas cardíacos congênitos. É geralmente diagnosticada na infância durante o exame clínico de rotina, e os adultos normalmente apresentam hipertensão. Diversas investigações, como ecocardiografia transtorácica, tomografia computadorizada e angiorressonância magnética, podem auxiliar no diagnóstico. O prognóstico depende da idade na apresentação e da gravidade da coarctação. As opções de tratamento disponíveis são o reparo aberto e o reparo endovascular. O bypass extra-anatômico é a opção preferida em caso de anatomia desfavorável. O acompanhamento de longo prazo é necessário após o reparo devido ao risco de reestenose e formação de aneurisma. Descrevemos o caso de uma jovem do sexo feminino que apresentou hipertensão, a qual foi diagnosticada como coarctação da aorta. Foi realizada derivação da artéria subclávia esquerda para a aorta torácica descendente. O pós-operatório transcorreu sem intercorrências, e a paciente apresentou melhora da hipertensão.

RESUMO

Abstract Coarctation of the aorta is a rare congenital abnormality, with an incidence of 6-8% of all congenital heart problems. It is usually diagnosed in childhood during routine clinical examination and adults mostly present with hypertension. Various investigations like transthoracic echocardiography, computed tomography, and magnetic resonance angiography can help with diagnosis. Prognosis depends on age at presentation and the severity of coarctation. Treatment options available are open and endovascular repair. Extra-anatomical bypass is the preferred option in cases with unfavorable anatomy. Long term follow up is required post repair due to risk of restenosis and aneurysm formation. Here is a case in which a young female presented with hypertension, was diagnosed with coarctation of the aorta, and was treated a left subclavian artery to descending thoracic aorta bypass. Her postoperative course was uneventful and she had improvement in hypertension.

Resumo A coarctação da aorta é uma anomalia congênita rara, com incidência de 6-8% entre todos os problemas cardíacos congênitos. É geralmente diagnosticada na infância durante o exame clínico de rotina, e os adultos normalmente apresentam hipertensão. Diversas investigações, como ecocardiografia transtorácica, tomografia computadorizada e angiorressonância magnética, podem auxiliar no diagnóstico. O prognóstico depende da idade na apresentação e da gravidade da coarctação. As opções de tratamento disponíveis são o reparo aberto e o reparo endovascular. O bypass extra-anatômico é a opção preferida em caso de anatomia desfavorável. O acompanhamento de longo prazo é necessário após o reparo devido ao risco de reestenose e formação de aneurisma. Descrevemos o caso de uma jovem do sexo feminino que apresentou hipertensão, a qual foi diagnosticada como coarctação da aorta. Foi realizada derivação da artéria subclávia esquerda para a aorta torácica descendente. O pós-operatório transcorreu sem intercorrências, e a paciente apresentou melhora da hipertensão.

RESUMO

We report the case of a fetus presenting aortic arch anomalies associated with a ventricular septal defect (VSD). This fetus, which was referred at 25 weeks of gestation, was suspected to have coarctation of aorta (CoA) evidenced by enlarged right chambers at the four-chamber view during a routine obstetric ultrasonographic scan. The prenatal diagnosis of CoA remains a challenge. Here, we review the ultrasonographic findings that could contribute to this diagnosis.

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RESUMO

Introduction: Hypertension (HTA) is an important comorbidity in children with aortic coarctation (COAO) and 24-hour ambulatory blood pressure monitoring (ABPM) allows an accurate diagnosis. Objective: Describe the prevalence of HTA in the office and its recategorization with ABPM Material and methods: Descriptive, observational, retrospective study; It included children between 4 and 18 years with COAO who performed ABPM. PA was registered in the office and ABPM, echocardiogram and medication. Results: 33 patients, 26 men, age 10.2 ± 3.8 years, By PA in the office: 22 normotensive; 8 HTA controlled; 2 preHTA; 1 HTA not medicated. With 32 complete MAP records, they were categorized: normotensive 11, preHTA 7, nocturnal HTA 3, masked HTA 4; HTA controlled 3; Uncontrolled HTA 3 and 1 HTA. Conclusion: The prevalence of hypertension in this population in the office was low. The ABPM recategorized and detected nocturnal HTA and masked HTA.

Introducción: La hipertensión arterial (HTA) es una comorbilidad importante en niños con coartación de aorta (COAO) y el monitoreo ambulatorio de presión arterial de 24horas (MAPA) permite un diagnóstico preciso. Objetivo: Describir la prevalencia de HTA por presión arterial (PA) en consultorio y su recategorización con MAPA Material y Método: Estudio descriptivo, observacional, retrospectivo; incluyó niños entre 4y18 años con COAO que realizaron MAPA. Se registró PA en consultorio y MAPA, ecocardiograma y medicación. Resultados: 33 pacientes, 26 varones, edad 10,2 ± 3,8 años, Por PA en consultorio: 22 normotensos; 8 HTA controlada; 2 preHTA; 1 HTA no medicado. Con 32 registros completos de MAPA, se recategorizaron: normotensos 11, preHTA 7, HTA nocturna 3, HTA enmascarada 4; HTA controlada 3; HTA no controlada 3 y 1 HTA. Conclusión: La prevalencia de HTA en esta población en consultorio fue baja. El MAPA recategorizó y detectó HTA nocturna e HTA enmascarada.

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Assuntos

RESUMO

El síndrome de Rubinstein-Taybi es producido por una anomalía genética y se caracteriza por una facies típica, anomalías de manos y pies, microcefalia y retraso mental. Alrededor del 30% de los individuos afectados tienen defectos cardíacos congénitos asociados. En esta presentación se describen los casos de dos pacientes con diagnóstico de síndrome de Rubinstein-Taybi asociado con alteraciones cardíacas congénitas. Uno de ellos, de 25 años, presentaba coartación de la aorta nativa, localizada en la región yuxtaductal, y el otro, de 11 meses de edad, mostraba un conducto arterioso permeable de tamaño grande. Ambos pacientes recibieron tratamiento intervencionista percutáneo exitoso, con evolución alejada satisfactoria.(AU)

The Rubinstein-Taybi syndrome is a genetic disorder charac-terized by distinctive facial features, anomalies in hands and feet, microcephaly and mental disability. Approximately 30% of subjects affected with this syndrome have associated congenital cardiac defects. This presentation describes two cases of Rubistein-Taybi syndrome with congenital cardiac disorder: a 25-year old patient with native juxtaductal coarctation of the aorta and an 11-month old infant, with large patent ductus arteriosus. Both patients underwent successful percutaneous intervention, with satisfactory long-term outcome.(AU)

RESUMO

El síndrome de Rubinstein-Taybi es producido por una anomalía genética y se caracteriza por una facies típica, anomalías de manos y pies, microcefalia y retraso mental. Alrededor del 30% de los individuos afectados tienen defectos cardíacos congénitos asociados. En esta presentación se describen los casos de dos pacientes con diagnóstico de síndrome de Rubinstein-Taybi asociado con alteraciones cardíacas congénitas. Uno de ellos, de 25 años, presentaba coartación de la aorta nativa, localizada en la región yuxtaductal, y el otro, de 11 meses de edad, mostraba un conducto arterioso permeable de tamaño grande. Ambos pacientes recibieron tratamiento intervencionista percutáneo exitoso, con evolución alejada satisfactoria.

The Rubinstein-Taybi syndrome is a genetic disorder charac-terized by distinctive facial features, anomalies in hands and feet, microcephaly and mental disability. Approximately 30% of subjects affected with this syndrome have associated congenital cardiac defects. This presentation describes two cases of Rubistein-Taybi syndrome with congenital cardiac disorder: a 25-year old patient with native juxtaductal coarctation of the aorta and an 11-month old infant, with large patent ductus arteriosus. Both patients underwent successful percutaneous intervention, with satisfactory long-term outcome.