Evaluación prenatal del síndrome de heterotaxia por ecografía fetal / Prenatal assessment of heterotaxy syndrome by fetal ultrasound

Resumen El síndrome de heterotaxia es una entidad de baja prevalencia, que tiene su origen durante el desarrollo embrionario, que afecta a diversos órganos y sistemas. Es por ello que su diagnóstico representa un reto durante la gestación. El pronóstico dependerá principalmente de las malformaciones cardiacas asociadas. Se presenta el caso de un paciente con diagnóstico de síndrome de heterotaxia durante el primer trimestre. Se detallan los patrones ecográficos obtenidos durante el tamizaje del primer trimestre que auxiliaron a integrar el diagnóstico de esta entidad, así como las anomalías cardiacas asociadas. El manejo debe contemplar a un equipo multidisciplinario, el cual brinde un manejo oportuno, que será principalmente quirúrgico, enfocado en las malformaciones cardiacas.

Abstract Heterotaxy syndrome is a low prevalence entity, which originates during embryonic development, affecting diverse organs and systems. That is why its diagnosis represents a challenge during pregnancy. The prognosis depends mainly on the associated cardiac malformations. The case of a patient with a diagnosis of heterotaxy syndrome during the first trimester is presented. The ultrasound patterns obtained during the first trimester screening that helped to integrate the diagnosis of this entity are detailed, as well as the associated cardiac anomalies. Management must contemplate a multidisciplinary team, which provides timely management, which will be mainly surgical, focused on cardiac malformations.

Síndrome de heterotaxia: hallazgos tomográficos / Heterotaxy syndrome: tomographic findings

Resumen El objetivo de este trabajo es caracterizar los aspectos tomográficos relevantes en el síndrome de heterotaxia, mediante cuatro pacientes que ejemplifican los hallazgos más frecuentes en esta patología. Situs solitus es la disposición habitual de los órganos y vasos sanguíneos y situs inversus se refiere a la imagen en espejo del situs solitus. Cuando la disposición de los órganos es indeterminada e impredecible y no se corresponde con el situs solitus ni el situs inversus, estamos frente al situs ambiguus o síndrome de heterotaxia, espectro de anomalías poco frecuente en las relaciones de los órganos toracoabdominales. Puede acompañarse de isomerismo derecho o isomerismo izquierdo. Clasificarlo en dos subgrupos es habitualmente difícil, ya que ninguno de estos tiene hallazgos únicos y patognomónicos, sino que existe amplia superposición. Ambos son de mal pronóstico, en los casos de isomerismo izquierdo un 5-10% llegan a la edad adulta, siendo de peor pronóstico los casos de isomerismo derecho, debido a que presentan inmunodepresión secundaria a la asplenia y cardiopatías congénitas más severas. Se debe analizar cada caso de forma individualizada y detallada para establecer el diagnóstico, determinar la asociación lesional y establecer aquellos pacientes que presenten mayor riesgo de complicaciones.

Abstract The objective of this brief communication is to characterize the relevant tomographic aspects in the heterotaxy syndrome, by means of 4 patients that exemplify the most frequent findings in this pathology. Situs solitus is the usual arrangement of organs and blood vessels and situs inversus refers to the mirror image of situs solitus. When the arrangement of the organs is indeterminate and unpredictable and does not correspond to situs solitus or the situs inversus, we are facing the situs ambiguus or heterotaxy syndrome, abnormal spectrum of anomalies in the relations of the thoracoabdominal organs. It may be accompanied by right isomerism or left isomerism. Attempts to classify it into two subgroups are usually difficult since none of these has unique and pathognomonic findings, but rather there is broad overlap. Both are of poor prognosis, in the cases of left isomerism 5-10% reach adulthood, with a worse prognosis being the cases of right isomerism due to the fact that they have immunodepression secondary to asplenia and more severe congenital cardiopathies. Each case should be analyzed in an individualized and detailed manner to establish the diagnosis, determine the lesional association and establish those patients that present a higher risk of complications.

Analysis of cardiovascular misinterpretations of prenatal ultrasound diagnosis in fetuses with heterotaxia syndrome / 中华超声影像学杂志

Objective To explore the correlation between the cardiovascular ultrasound results and pathological findings of heterotaxia syndrome ,analyze the cause of the difference ,and improve the prenatal cardiovascular diagnostic accuracy of heterotaxia syndrome by ultrasound . Methods According to fetal autopsy or vessel casting , the ultrasound results of 37 fetuses with heterotaxia syndrome were retrospectively analyzed . The cardiovascular misinterpretations of ultrasound were summarized in the venous-atrialsegment,atrial-ventricular segment andventricular-arterial segment.Results ①Thirty fetuses underwent autopsy and seven fetuses vessel casting were included ,there were 10 fetuses with left atrial isomerism and 27 fetuses with right atrial isomerism .Only one left isomerism was misdiagnosed and the diagnostic accuracy of atrial isomerism by ultrasound was 97 .3％ . ② Thirty-seven fetuses with heterotaxia syndrome included 206 cardiovascular malformations . Twenty-seven misinterpretations of ultrasound were found and the rate of cardiovascular misinterpretations was 13 .1％ . ③ The cardiovascular misinterpretations of left atrial isomerism involved 1 secondary atrial septal defect in the atrial-ventricular segment and 1 aortic atresia ,2 anomalous position of arterial duct in the ventricular-arterial segment . ④The cardiovascular misinterpretations of right atrial isomerism in the venous-atrial segment included 4 common pulmonary vein atresia , 3 anomalous hepatic venous connection , 3 total abnormal pulmonary venous drainage , 2 persistent left superior vena cava and 2 abnormal inferior cava venous drainage . The cardiovascular misinterpretations of right atrial isomerism in the atrial-ventricular segment contained 2 secondary atrial septal defect ,1 unroofed coronary sinus and 1 partial atrioventricular septal defect . The cardiovascular misinterpretations of right atrial isomerism in the ventricular-arterial segment involved 3 double-outlet right ventricle ,1 truncus arteriosus and 1 anomalous position of arterial duct . Conclusions The correspondence between ultrasound results and pathological findings about cardiovascular malformations of heterotaxia syndrome is high . The most common cardiovascular misinterpretations of left atrial isomerism involve the ventricular-arterial segment . And the most common cardiovascular misinterpretations of right atrial isomerism involve the venous-atrial segment .

Autopsy findings of a child with left atrial isomerism associated with pulmonary agenesis / Achados de autópsia de uma criança com isomerismo atrial esquerdo associado à agenesia pulmonar

ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed right renal agenesis, single umbilical artery and polyhydramnios. Echocardiography revealed a complex heart defect with LAI. The child died minutes after birth. Autopsy confirmed the prenatal findings and revealed the presence of unilateral PA, complex vascular abnormalities and polysplenia. Despite its rarity, health professionals should be aware for the possibility of such an association.

RESUMO O isomerismo é um defeito de lateralidade raro. Nosso objetivo foi descrever os achados da autópsia de uma criança com isomerismo atrial esquerdo (IAE) e agenesia pulmonar (AP), uma associação ainda não descrita na literatura. A ultrassonografia fetal revelou agenesia renal direita, artéria umbilical única e polidrâmnio; a ecocardiografia apresentou defeito cardíaco complexo com IAE. A criança morreu minutos após o nascimento. A autópsia confirmou os achados pré-natais e revelou a presença de agenesia pulmonar unilateral, anormalidades vasculares complexas e polisplenia. Apesar de sua raridade, profissionais da saúde devem estar cientes da possibilidade dessa associação.

Atresia biliar sindrómica en un paciente pediátrico: Reporte de caso / Case Report of Syndromic Biliary Atresia in a Pediatric Patient

La atresia de vías biliares es una colangiopatía obstructiva neonatal de etiología desconocida que produce una lesión del parénquima hepático y de la vía biliar intrahepática y extrahepática. Representa la causa más común de colestasis neonatal y trasplante hepático en la población pediátrica y se manifiesta como malformación aislada en la mayoría de los casos. Se presenta un caso de un paciente de 75 días de vida con atresia de vías biliares asociado a heterotaxia abdominal. El síndrome de atresia biliar y malformación esplénica ha sido descrito previamente como atresia de vías biliares asociado a malformaciones anatómicas del bazo, páncreas, alteraciones cardíacas y en menor frecuencia malformaciones genitourinarias. El pronóstico de los pacientes con atresia de vías biliares ha mejorado notoriamente con el reconocimiento temprano de los signos semiológicos y con la realización de la portoenterostomía (Kasai) en forma oportuna para lograr mejorar la sobrevida de los pacientes con atresia de vías biliares sindrómica.

Biliary atresia is an obstructive neonatal cholangiopathy of unknown etiology that produces damage to the parenchyma of the liver and to the intrahepatic and extrahepatic bile ducts. It is the most common cause of neonatal cholestasis and liver transplantation in the pediatric population. In most cases it manifests as an isolated malformation. This article presents the case of a 75 day old patient with biliary atresia associated with abdominal heterotaxy. Biliary atresia syndrome together with splenic malformation has been previously described, as have biliary atresia associated with anatomical malformations of the spleen, pancreas, and heart. It occurs with genitourinary malformations less frequently. The prognosis of patients with biliary atresia has significantly improved with early recognition of signs and symptoms and timely performance of hepatoportoenterostomy (Kasai portoenterostomy).

Presentación clínica y evolución del isomerismo derecho / Clinical Presentation and Outcome of Right Isomerism

Introducción: El dextroisomerismo es una de las formas más complejas de cardiopatías congénitas. Los avances en el tratamiento médico y en los procedimientos quirúrgicos de los últimos años han permitido encarar el manejo de estos pacientes, no obstante lo cual el pronóstico sigue siendo incierto o poco satisfactorio. Objetivo: Comunicar las características clínicas, conductas y resultados del dextroisomerismo en nuestra población hospitalaria. Material y métodos: Estudio de diseño de cohorte retrospectivo realizado en el Hospital Nacional de Pediatría “Prof. Dr. Juan P. Garrahan”. Entre 1997 y 2011 se identificaron 72 pacientes con una mediana de seguimiento de 5,1 años (rango 1-26 años). Resultados: En el 91,7% la presentación fue neonatal, 66 pacientes con cianosis y 6 con insuficiencia cardíaca. Las características anatómicas más frecuentes fueron válvula AV común (n = 56), obstrucción pulmonar (n = 67), conexión ventriculoarterial discordante (n = 44) y tipo doble salida (n = 27), aurícula única (n = 25), vena cava superior bilateral sin innominada (n = 30), anomalía total del retorno venoso pulmonar (ARVP) (n = 43), asplenia (n = 53). Se detectaron anomalías extracardíacas en 11 pacientes. Al 76,38% se les indicó tratamiento quirúrgico, el estadio máximo alcanzado fue la cirugía paliativa en 14 pacientes, Glenn en 17, bypass de ventrículo subpulmonar (BPVP) en 23 y cirugía tipo ventrículo uno y medio en 1 paciente. La mortalidad global fue del 39,45% (n = 28); para los diferentes procedimientos paliativos fue del 29%, para el estadio de Glenn del 29% y para el BPVP, del 21,76%. En el análisis univariado, la mortalidad asociada con ARVP infradiafragmática fue significativa (p = 0,02). Para el estadio de Glenn la mortalidad se relacionó con el Glenn bilateral (p = 0,04), mientras que para el BPVP no se identificó una causa determinada. En los estadios de la cirugía univentricular desarrollaron estenosis de venas pulmonares 3 pacientes, colaterales aortopulmonares 4 pacientes y progresión a insuficiencia AV grave 2 pacientes. Conclusiones: En la mayoría, la edad de presentación fue neonatal y con clínica de cianosis. En el dextroisomerismo, la fisiología univentricular es predominante. Se detectó un 15% de anomalías extracardíacas. La mortalidad de los pacientes no quirúrgicos y con cirugía paliativa estuvo asociada con ARVP infradiafragmática. En el estadio de Glenn, la mortalidad se relacionó con el tipo bilateral. Solamente un tercio de los pacientes pudieron alcanzar el estadio de BPVP. Los eventos en el seguimiento a mediano plazo en los pacientes en los estadios de Glenn y BPVP son frecuentes.

Background: Right isomerism is one of the most complex forms of congenital heart disease. Recent advances in medical treatment and surgical procedures have allowed addressing the management of these patients. Nevertheless, the prognosis remains uncertain or unsatisfactory. Objective: The aim of this study was to report the clinical characteristics, management and outcomes of right isomerism in our hospital population. Methods: This was a retrospective cohort design study conducted at Hospital Nacional de Pediatría “Prof. Dr. Juan P. Garrahan”. Between 1997 and 2011, 72 patients with median followup of 5.1 years (1 and 26 years) were identified. Results: In 91.7% of cases, patients were in the neonatal period, 66 patients with cyanosis and 6 patients with heart failure. The most frequent anatomic lesions were: common AV valve (n=56), pulmonary obstruction (n=67), ventriculoarterial discordance (n=44) and double outlet right ventricle (n=27), commom atrium (n=25), bilateral superior vena cava without innominate vein (n=30), total anomalous pulmonary venous return (APVR) (n=43) and asplenia (n=53). Extracardiac lesions were detected in 11 patients. Cardiovascular surgery was indicated in 76.38% of cases: The maximum stage achieved was palliative surgery in 14 patients, Glenn procedure in 17 patients, subpulmonary ventricular bypass (PVBP) in 23 patients and one and a half ventricular correction in 1 patient. Overall mortality was 39.45% (n=28). Mortality for the different palliative procedures was 29%, for the Glenn stage, 29% and for PVBP, 21.76%. In the univariate analysis, a significant association was found between mortality and infradiaphragmatic APVR (p=0.02). Glenn stage mortality was related to bilateral Glenn procedure (p=0.04), whereas no related cause was identified for PVBP. In the univentricular stages of surgery, 3 patients developed pulmonary vein stenosis, 4 patients developed aortopulmonary collaterals, and 2 patients progressed to AV regurgitation. Conclusions: The majority of cases presented in the neonatal period and with cyanosis characteristics. In right isomerism, univentricular physiology is predominant. Extracardiac anomalies were detected in 15% of cases. Mortality of non-surgical and palliative procedure cases was associated with infradiaphragmatic APVR. Glenn stage mortality was related to bilateral procedures. Only one third of patients could reach PVBP. Events in Glenn and PVBP midterm follow-up are frequent.

Heterotaxy syndrome: a case report / Síndrome de heterotaxia: relato de caso

The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

Neste trabalho são apresentados os achados na angiotomografia computadorizada do tórax de uma paciente de 28 anos com síndrome de heterotaxia. Esta consiste em diversas anormalidades de posicionamento e morfologia de órgãos toracoabdominais, que não se enquadram no situs solitus ou situs inversus. Os exames de imagem são fundamentais na individualização da abordagem do paciente.

Manifestaciones abdominales de las anomalías del Situs Ambiguous en el adulto: a propósito de cuatro casos / Situs Ambiguous abnormalities in adults: a study of four cases

Las Anomalías del Situs (ASIT) han sido descritas principalmente en la población pediátrica y existe escasa información sobre éstas en el adulto. Son anomalías muy raras; en el caso del Situs Ambiguous (SAMB) en el adulto sólo se han publicado pocas series de casos. SAMB, también llamado heterotaxia o Síndrome de heterotaxia, es definido como la posición anormal o ambigua de los órganos y vasos, que además pueden asociarse a alteraciones morfológicas características de cada órgano. Existen dos grandes grupos dentro de los SAMB: Poliesplenia y Asplenia. En la presente publicación se expone una revisión bibliográfica específica, la cual tiene énfasis en clasificación de las ASIT del adulto y los hallazgos abdominales en los casos de SAMB. Será complementada clínica e imaginológicamente con cuatro casos de estudios tomográficos abdominales.

Anomalies Situs (ASIT) has been described mainly in the pediatric population and there is little information on this in adults. These are very rare abnormalities; in the case of Situs Ambiguous (SAMB) in adults, there have only been a few published case series. SAMB, also called heterotaxy or heterotaxy Syndrome, is defined as the abnormal or ambiguous positioning of organs and vessels, that could also be associated with morphological alterations characteristic of each organ. There are two main groups within SAMB: polysplenia and asplenia. This publication present a specific literature review, with emphasis on the classification of adult ASIT and abdominal findings in cases of SAMB. It will be complemented clinically and radiologically with four cases of abdominal tomographic imaging studies.

Ressonância magnética cardiovascular em veia cava inferior interrompida não prevista / Cardiovascular magnetic resonance in unsuspected interrupted inferior vena cava / Cardiovascular magnetic resonance in unsuspected interrupted inferior vena cava

A Veia Cava Inferior (VCI) interrompida é uma anomalia rara. As anomalias da VCI são clinicamente importantes para os cardiologistas e radiologistas que pretendem intervir na cavidade cardíaca direita. Descrevemos três casos de interrupção da VCI diagnosticados por meio de estudo imaginológico de ressonância magnética cardíaca.

Interrupted inferior vena cava (IVC) is a rare anomaly. Anomalies of IVC are clinically important for cardiologists and radiologists who plan to intervene in the right heart. We describe three cases of IVC interruption diagnosed by cardiac magnetic resonance imaging study.

La Vena Cava Inferior (VCI), interrumpida es una anomalía rara. Las anomalías de la VCI son clínicamente importantes para los cardiólogos y radiólogos que pretenden intervenir en la cavidad cardíaca derecha. Aquí describimos tres casos de interrupción de la VCI diagnosticados por medio de un estudio imaginológico de resonancia magnética cardíaca.

Chest radiographic findings in children with asplenia syndrome.

Background: Early diagnosis of asplenia syndrome is important because prophylactic antibiotic and proper vaccination will prevent serious infection. Most children with asplenia syndrome present with symptoms of congenital heart disease. Chest X-ray is usually the first line imaging modality. Objective: Define useful findings in chest radiograph that could suggest the diagnosis of asplenia syndrome. Methods: Chest radiographs of pediatric patients who had asplenia syndrome diagnosed between January 1, 2002 and June 30, 2008 in a single institute were retrospectively reviewed for the positions of the visceral organs in the chest and abdomen. Results: Three hundred seventy one chest radiographs of 30 patients were reviewed. The mean age at diagnosis was 3 years old. Asplenia was diagnosed by ultrasound in 27 patients, by CT scan in two patients, and by damaged red blood cell scintigraphy in one patient. Six important findings detected from chest radiographs were, 1) bilateral minor fissures, 16 cases (53%), 2) bilateral eparterial bronchi, 16 cases (53%), 3) ipsilateral side of stomach and liver, 12 cases (40%), 4) ipsilateral side of minor fissure or eparterial bronchus and stomach, 10 cases (33%), 5) symmetrical transverse lie of the liver, nine cases (30%), and 6) contralateral side of minor fissure or eparterial bronchus and the liver in seven cases (23%). All except two patients (93%) had at least one of the above findings. All patients had congenital heart diseases. Most of the heart diseases were pulmonary atresia or pulmonary stenosis (88%) and single ventricle (85%). Conclusion: Chest radiographs have high sensitivity in suggesting the diagnosis of asplenia syndrome, when detecting one or more of the above findings, particular in patients with congenital heart disease and decreased pulmonary vasculature.

Heterotaxia Syndrome with Intraluminal Duodenal Diverticulum

Both heterotaxia and intraluminal duodenal diverticulum (IDD) are uncommon congenital anomalies. Heterotaxia is a group of situs anomalies and IDD is a type of duodenal atresia. Heterotaxia is commonly associated with intraabdominal abnormalities causing intestinal obstruction, but heterotaxia with IDD is extremely rare. Herein we report a case of 21-year-old female who presented with symptoms of duodenal obstruction due to IDD associated with heterotaxia. This is the second case found as a result of a search through PubMed. We first used 3-dimentional virtual computed tomograph endoscopy for making the diagnosis and the treatment plan of this patient.