Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum

A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome.

Cateterismo intervencionista na estenose valvar pulmonar crítica do recém-nascido e na atresia pulmonar com septo interventricular íntegro: 13 anos de experiência de um serviço terciário / Interventional catheterization in neonatal critical pulmonary valve stenosis and pulmonary atresia with intact ventricular septum: 13 years of experience at a tertiary service

Introdução: A abordagem percutânea é opção de escolha em neonatos portadores de estenose pulmonar crítica (EP) e atresia pulmonar com septo interventricular íntegro (APSI). Neste trabalho são descritos casos tratados consecutivamente em centro de referência e seu seguimento a médio prazo. Métodos: A maioria dos pacientes recebeu infusão endovenosa de prostaglandina pré-procedimento, independentemente da necessidade hemodinâmica. Na abordagem da APSI, foi utilizada guia de ponta rígida e, mais recentemente, valvotomia com cateter de radiofrequência. Na maioria dos casos, foi realizada dilatação sequencial com balão até atingir 110 a 120 do diâmetro do anel valvar pulmonar. Resultados: Entre 1998 e 2011, 17 neonatos com APSI (idade mediana de 5 dias, peso de 3,1 ± 0,6 kg) e 30 neonatos com EP (idade mediana de 12 dias, peso médio de 3 ± 1,4 kg) foram tratados em um serviço terciário. Na APSI, 14 pacientes foram abordados com guia rígida, com sucesso de 71,4, e 3 com radiofrequência, com sucesso de 100. Na EP, o sucesso foi alcançado em todos os casos. O óbito hospitalar foi de 23,5 no grupo com APSI e de 3,3 no grupo com EP, nenhum relacionado ao procedimento percutâneo. Na evolução a médio prazo, a taxa de reintervenção por reestenose foi de 21,4 no grupo com APSI e de 10 no grupo com EP. Conclusões: A valvoplastia pulmonar na EP e na APSI apresenta resultados clínicos e hemodinâmicos aceitáveis, desde que se observem características anatômicas favoráveis e se mantenha a patência do fluxo pulmonar até o procedimento. A morbidade e a mortalidade dos portadores de EP crítica são mais baixas que as de portadores de APSI.

BACKGROUND: The percutaneous approach is the therapy of choice in neonates with critical pulmonary stenosis (PS) and pulmonary atresia with intact interventricular septum (PAIVS). Consecutive cases treated at a reference center and their midterm follow-up was reported in this study. METHODS: Most of the patients received an intravenous infusion of prostaglandin preoperatively, regardless of the need. For the PAIVS approach, a stiff-tip guidewire was used and more recently, radiofrequency valvotomy. In most cases, sequential balloon dilation was performed until 110% to 120% of the pulmonary valve ring diameter was reached. RESULTS: Between 1998 and 2011, 17 neonates with PAIVS (median age of 5 days, mean weight of 3.1 + 0.6 kg) and 30 neonates with PS (median age of 12 days, mean weight of 3 + 1.4 kg) were treated at a tertiary center. In PAIVS patients, a stiff-tip guidewire was used in 14 cases, with a success rate of 71.4%, and radiofrequency perforation in 3 cases, with a success rate of 100%. In PS patients, success was achieved in all of the cases. Hospital death was 23.5% for the PAIVS group and 3.3% for the PS group, none related to the percutaneous procedure. In the midterm follow-up, the reintervention rate due to restenosis was 21.4% in the PAIVS group and 10% in the PS group. CONCLUSIONS: Pulmonary valvuloplasty in PS or PAIVS has acceptable clinical and hemodynamic results, as long as favorable anatomic characteristics are observed and patent pulmonary flow is maintained until the procedure. Morbidity and mortality of patients with critical PS are lower than patients with PAIVS.

Intervenções terapêuticas no coração fetal / Fetal cardiac interventions

Nos últimos 10 anos, houve um intenso desenvolvimento da cardiologia invasiva fetal. Após tentativas isoladas de dilatação da valva aórtica intraútero em alguns centros de cardiologia pediátrica, o grupo de cardiologia fetal do Children’s Hospital de Boston iniciou um programa de terapêutica invasiva cardíaca fetal, acumulando uma experiência de mais de 140 casos. As intervenções cardíacas intraútero ainda estão restritas a cardiopatias graves com alto risco de óbito neonatal ou de evolução para hipoplasia dos ventrículos esquerdo ou direito. As principais anomalias abordadas são a estenose valvar aórtica crítica, a síndrome de hipoplasia do coração esquerdo com grave restrição ao fluxo no plano atrial e a atresia pulmonar ou estenose pulmonar crítica com septo interventricular íntegro. Os procedimentos são realizados de forma percutânea por via transabdominal materna após bloqueio espinhal e anestesia fetal. Estas intervenções requerem uma equipe multidisciplinar, com o trabalho em conjunto de vários profissionais experientes nas áreas de medicina fetal, cardiologia intervencionista pediátrica e ecocardiografia fetal e devem ser reservadas a grandes centros de referência altamente capacitados. Conforme os resultados demonstrados pelo grupo de Boston e outros centros mundiais, as intervenções fetais são factíveis, apresentam baixos índices de complicação e têm efetividade crescente. Constituem-se em terapêutica promissora para as cardiopatias congênitas mencionadas em pacientes selecionados.

Tetralogía de Fallot con atresia pulmonar: Morfopatología y anatomía quirúrgica / Tetralogy of Fallot with pulmonary atresia: Morphopathology and surgical anatomy

Se detalla la morfopatología de la tetralogía de Fallot con atresia pulmonar como un espectro de variaciones que sirve de fundamento para destacar la anatomía quirúrgica de esta cardiopatía y se muestra la base embriológica que determina su estructura. Se estudiaron 35 corazones con el sistema secuencial segmentario. Se determinó: situs atrial, conexiones entre los segmentos cardíacos y entre el ventrículo derecho y la vasculatura arterial pulmonar. El situs atrial fue solitus, predominó la conexión atrioventricular concordante (33), las conexiones ventriculoarteriales fueron concordantes (17), doble salida de ventrículo derecho (9) y única vía de salida (9). Todos presentaron atresia valvular pulmonar; el tronco pulmonar fue hipoplásico (20), atrésico proximal (6) y ausente (9), ramas pulmonares confluentes e hipoplásicas (25), ausencia de confluencia (5), ausencia total de ramas y de conductos arteriosos (5) y colaterales aortopulmonares (10). Los corazones mostraron un espectro morfopatológico de severidad que expresa la tendencia a la desaparición de la conexión entre el ventrículo derecho y la circulación arterial intrapulmonar. Se resaltan las formas de la irrigación arterial pulmonar como fundamento para unifocalizar el flujo hacia los pulmones y se hace hincapié en la utilidad de la clasificación anatomoquirúrgica de Barbero Marcial. El conocimiento embriológico es útil para entender las conexiones vasculares del ventrículo derecho con los derivados de los sextos arcos aórticos, los vasos arteriales intrapulmonares y las colaterales aortopulmonares.

The morphopathology of tetralogy of Fallot with pulmonary atresia is detailed as a spectrum of variations which is the foundation to highlight the surgical anatomy of this cardiopathy and it is shown the embryological basis which determines its structure. Thirty five hearts were studied with the methodology of the segmental sequential system. The atrial situs, the connections between the cardiac chambers and between the right ventricle and the arterial pulmonary vasculature were determined. The atrial situs was solitus, the concordant atrioventricular connection was the most frequent (33), the ventriculoarterial connections were concordant (17), double outlet right ventricle (9) and single outlet (9). All hearts had atresia of the pulmonary valve; the pulmonary trunk was hypoplastic (20), atretic proximally (6) and completely absent (9), confluent and hypoplastic pulmonary branches (25), absence of confluence (5), complete absence of pulmonary branches and arterial ducts (5) and presence of aortopulmonary collaterals (10). The hearts show a morphopathologic spectrum of severity which documents the tendency in disappearing the connection between the right ventricle and the intrapulmonary arterial circulation. The determination of the arterial supply to the lungs is highlighted to unifocalize the blood flow toward the lungs. The usefulness of Barbero Marcial's surgical classification is emphasized. The embryologic knowledge is basic in understanding the vascular connections between right ventricle and the derivatives of embryonic sixths aortic arches, the intrapulmonary arterial vessels and the aortopulmonary collaterals.

Estudo angiográfico da circulação pulmonar na tetralogia de Fallot com atresia pulmonar / Angiographic study of pulmonary circulation in tetralogy of Fallot with pulmonary atresia

OBJETIVO: Identificar os tipos de suprimento sangüíneo vascular pulmonar na tetralogia de Fallot com atresia pulmonar por meio de estudo hemodinâmico. MÉTODOS: Foram submetidos a estudo cineangiocardiográfico 56 pacientes portadores de tetralogia de Fallot com atresia pulmonar com idade de 20 dias a 4 anos e efetuadas injeções de contraste nas seguintes estruturas vasculares: 1) veia pulmonar encunhada, 2) colaterais aortopulmonares, 3) aorta torácica e 4) ductus arteriosus e/ou shunt sistêmico pulmonar. RESULTADOS: Dos 56 pacientes, 15 tinham o suprimento sangüíneo pulmonar através de colaterais aortopulmonares, em 36 o suprimento sangüíneo pulmonar era feito isoladamente pelo ductus arteriosus e em 5 pelo ductus arteriosus e colaterais aortopulmonares. Conforme a presença ou ausência de estruturas vasculares que compõem a circulação pulmonar na tetralogia de Fallot com atresia pulmonar e do tipo de perfusão vascular pulmonar, os doentes foram classificados em 6 tipos. CONCLUSÃO: Em função da grande complexidade e extrema variabilidade do suprimento sangüíneo pulmonar na tetralogia de Fallot com atresia pulmonar torna-se possível, com este tipo de abordagem, a obtenção de informações, suficientemente necessárias, para o correto manuseio clínico-cirúrgico.

Síndrome de cimitarra asociado a atresia pulmonar con comunicación interventricular: Primer caso reportado / Scimitar syndrome associated to pulmonary atresia with interventricular communication: First reported case

Se presenta el caso de un masculino de 15 meses de edad con síndrome de cimitarra y atresia pulmonar con comunicación interventricular. El diagnóstico se hizo mediante cateterismo cardíaco y angiocardiografía y confirmado por el estudio de autopsia. Se hacen las consideraciones clínicas y quirúrgicas de esta excepcional asociación que a la fecha es, hasta donde sabemos la primera reportada en la literatura.

We present the case of a 15 months-old male with Scimitar Syndrome associated with ventricular septal defect and pulmonary atresia. The diagnosis was made by cardiac catheterization and angiography and was confirmed by the necropsy. Clinical and surgical considerations of this exceptional association were made. To the best of our knowledge this is the first case reported in the relevant literature.

Transcatheter guidewire perforation of the pulmonary valve as a palliative procedure in pulmonary atresia with intact interventricular septum.

We report two cases of pulmonary atresia with intact interventricular septum in whom we successfully perforated and performed balloon dilation of the atretic pulmonary valve using a simple guidewire technique. The technical challenges of performing this procedure in small infants are highlighted.

Stenting stenosed aortopulmonary collateral arteries in pulmonary atresia with ventricular septal defect.

We present two cases of pulmonary atresia with ventricular septal defect who were not suitable for corrective surgery due to absent or hypoplastic native pulmonary arteries and were quite symptomatic following shunt surgery. We dilated and stented stenosed aortopulmonary collaterals as palliative procedure with improvement in oxygen saturation, and significant symptomatic relief.

Heart-Lung Transplantation in Korea

Heart-lung transplantation is an effective treatment for patients with various forms of congenital heart disease or pulmonary hypertension. Since the first heart-lung transplantation in 1997, five transplants have been performed in Korea. Three cases were performed in 1997, one in 1998, and the latest one in 2002. The preoperative diagnoses were complex congenital heart disease (CHD) in 2, and CHD with Eisenmenger's syndrome in 3. In this paper, we report five cases of heart-lung transplantation performed in Korea, and include a review of the relevant literature.

Associaçäo de atresia pulmonar com septo interventricular íntegro e estenose valvar aórtica: diagnóstico pré-natal / Association of pulmonary atresia with intact ventricular septum and aortic valve stenosis: prenatal diagnosis

A rare association of pulmonary atresia with an intact septum was diagnosed through echocardiography in a fetus 32 weeks of gestational age. The diagnosis was later confirmed by echocardiography of the newborn infant and further on autopsy. The aortic valve was bicuspid with a pressure gradient of 81mmHg, and the right ventricle was hypoplastic, as were the pulmonary trunk and arteries, and the blood flow was totally dependent on the ductus arteriosus.

Pulmonary atresia with intact ventricular septum--a report of two cases with review of literature.

Two perinatal autopsy cases are reported where a rare congenital anomaly, namely pulmonary atresia with intact ventricular septum in association with tricuspid stenosis and a hypoplastic right ventricle was encountered.