Tratamento intervencionista das cardiopatias congênitas: estado da arte / Interventionist treatment of congenital heart defects: state of the art

Os avanços na tecnologia nas últimas décadas em relação ao tratamento intervencionista das cardiopatias congênitas têm permitindo excelentes resultados, em termos de morbimortalidade, a curto e longo prazo para este grupo especial de pacientes.Este artigo descreve os principais tratamentos disponíveis realizados com cateterismo intervencionista neste grupo de pacientes.

Technological advances in recent decades, in relation to interventionist treatment of congenital heart defects, have enabled excellent short- and long-term results for this group of patients, in terms of morbidity and mortality. This article describes the main treatmentsavailable involving interventionist catheterization in this group of patients.

Resolución exitosa de la estenosis congénita de las dos ramas de la arteria pulmonar en un adulto mediante el uso de stents / Successful resolution of congenital stenosis of the two branches of the pulmonary artery in an adult using stents

La estenosis de las arterias pulmonares son rara vez diagnosticadas en edad adulta, convirtiéndose su tratamiento en una compleja situación con diferentes posibilidades terapéuticas. Las causas mas frecuentes corresponden a las adquiridas, siendo las mas común la hipertensión pulmonar trombo embólica crónica, quedando reducido numero de casos congénitos asociado principalmente a síndrome genéticos y malformaciones cardiacas asociadas. El tratamiento quirúrgico convencional puede convertirse en un desafío dadas las condiciones anatómicas y funcionales encontradas en estadios avanzados propias del diagnostico tardío y en especial en el caso presentado el cual esta iniciando la sétima década de la vida. La posibilidad de resolución percutánea de estas lesiones cobra importancia a la luz de la amplia utilización de esta en pacientes pediátricos, implementando el uso cada vez mayor de balones con dilatación percutánea y la utilización de stents cada vez más sostificados con buenos resultados. Se presenta nuestro primer caso de resolución percutánea de lesiones coronarias y de arteria pulmonar bilateral en un paciente previamente programado para cirugía de reparación con parche y by pass coronario, el cual evolucionó en formas satisfactoria recobrando su actividad normal a las pocas horas del procedimiento.

Stenosis of the pulmonary arteries is rarely diagnosed in adulthood, turning their treatment in a complex situationwith different therapeutic possibilities. The most frequent causes are acquired, being the most common chronicthromboembolic pulmonary hypertension, remaining a small number of congenital cases mainly associated to geneticsyndromes or complex cardiac malformations. The standard surgical treatment may be a challenge given the anatomicaland functional conditions found themselves in advanced stages of late diagnosis and especially in the case presented,who is beginning the seventh decade of his life. The possibility of percutaneous resolution of these lesions becomesimportant in light of the widespread use of this option in pediatric patients, implementing and increasing its use withpercutaneous dilatation balloons and stents with increasing sophistication and showing good results. We present ourfirst case of percutaneous resolution of coronary lesions and bilateral pulmonary artery stenosis in a patient previouslyscheduled for patch repair surgery and coronary bypass, which evolved in successfully, gaining normal activity within fewhours of the procedure.

Hydatid cyst presented as pulmonary stenosis

A 27-years-old woman, presented with progressive dyspnea on exertion and chest pain. Transthoracic echocardiography revealed severe pulmonary stenosis. Her transsophageal echocardiography [TEE] showed a single, large, well-defined thin wall cystic mass with pressure on the main pulmonary artery at the level of pulmonic valve that caused severe pulmonary stenosis. Computed tomography [CT] scan of chest and abdomen confirmed presence of hydatid cyst in mediastinum and liver. Serologic test using Eliza was positive for echinococcal infection. Albendazol was started for the patient and she was referred to surgeon for resection of cystic mass but the patient refused the operation

Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento / Noonan syndrome: from phenotype to growth hormone therapy

A síndrome de Noonan (SN) é uma síndrome genética comum que constitui importante diagnóstico diferencial em pacientes com baixa estatura, atraso puberal ou criptorquidia. A SN apresenta grande variabilidade fenotípica e é caracterizada principalmente por dismorfismo facial, cardiopatia congênita e baixa estatura. A herança é autossômica dominante com penetrância completa. O diagnóstico é clínico, com base em critérios propostos por van der Burgt, em 1994. Recentemente, diversos genes envolvidos na via de sinalização RAS-MAPK foram identificados como causadores da SN: PTPN11, KRAS, SOS1, RAF1 e MEK1. O tratamento com hormônio de crescimento (hrGH) é proposto para corrigir a baixa estatura observada nestes pacientes. Estudos recentes apontam que pacientes com SN por mutações no gene PTPN11 apresentam pior resposta ao tratamento com hrGH quando comparado com pacientes sem mutações no PTPN11. Este artigo revisará os aspectos clínicos, moleculares e do tratamento da baixa estatura de crianças com SN com hrGH.

Noonan Syndrome (NS) is one of the most common genetic syndromes and it is an important differential diagnosis in children with short stature, delayed puberty and cryptorchidism. NS is characterized by dysmorphic facial features, congenital heart defects and short stature, but there is a great variability in phenotype. NS may occur in a pattern consistent with autosomal dominant inheritance with almost complete penetrance. The diagnosis is based on a clinical score system proposed by van der Burgt e cols. in 1994. In recent years, germline mutations in the components of RAS-MAPK (mitogen activated protein kinase) pathway have been shown to be involved in the pathogenesis of NS. Mutations in PTPN11, KRAS, SOS1, RAF1 e MEK1 can explain 60-70 percent of NS molecular cause. Growth hormone therapy is proposed to correct the short stature observed in these patients. Recent studies suggest that the presence of PTPN11 mutations in patients with NS indicates a reduced growth response to short-term hrGH treatment. In this article, it is reviewed clinical and molecular aspects of NS and hrGH treatment for short stature.

Holt-Oram syndrome with double outlet right ventricle with valvular and subvalvular pulmonary stenosis

The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects, most commonly an atrial septal defect. We report a rare case of sporadic Holt-Oram syndrome with double outlet right ventricle [DORV], valvular and subvalvular pulmonary stenosis, persistent left superior vena cava draining to the left atrium, and an ectopic right kidney

Nacimiento anómalo de la arteria coronaria izquierda en un tronco común en el seno de Valsalva derecho / Birth of the anomalous left coronary artery in a common trunk within Valsalva right

Se presenta el caso de una paciente de 36 años con antecedente de valvulotomía a los 14 años por estenosis pulmonar congénita, consultó por dolor torácico punzante y disnea de pequeños esfuerzos de 6 meses de evolución. La coronariografía mostró la arteria coronaria izquierda originándose de un tronco común con la arteria coronaria derecha y una lesión obstructiva severa en el origen de la arteria descendente anterior. La paciente fue referida para revascularización quirúrgica.

Síndrome de Ehlers-Danlos associada a anomalias de artérias pulmonares e sistemicas / Ehlers-Danlos syndrome associated by anomalies of systemic and pulmonare arteries

A síndrome de Ehlers-Danlos é um distúrbio hereditário raro do tecido conjuntivo resultando em grande flexibilidade das articulações, hérnia inguinal, aumento da elasticidade da pele e lesões do sistema cardiovascular, envolvendo o coração e artérias sistêmicas e pulmonares. Neste artigo relata-se o caso de um menino com diagnóstico prévio da síndrome que em avaliação pré-operatória de hérnia inguinal tinha sintomas de dispnéia e sopro, ao ecocardiograma Doppler foram observados sinais de estenoses do ramo esquerdo da artéria pulmonar. A angiografia pulmonar confirmou anomalias significativas e foi realizada angioplastia, entretanto, o paciente voltou a ter sintomas sendo então realizado tratamento cirúrgico. O paciente evoluiu com melhora clínica significativa e modificação do padrão de fluxo das artérias pulmonares avaliado pela ecocardiografia Doppler.