Situs ambiguous and hepatic vein anomaly: a case report / Situs ambiguous y anomalía de la vena hepática: informe de un caso

SUMMARY: Situs ambiguous is the placement of vessels and organs in the thoracoabdominal space that are anatomically located outside its normal position in a certain order. This condition is a broad definition that includes many variations. In this case report, we reported a patient with Situs ambiguus with an abnormal hepatic vein who was diagnosed incidentally during medical imaging (computed tomography, sonography and MRI study).

RESUMEN: El Situs ambiguous es la colocación de vasos y órganos en el espacio toracoabdominal que anatómicamente se encuentran fuera de su posición normal en un cierto orden. Esta condición es una definición amplia que incluye muchas variaciones. En este reporte de caso, reportamos un paciente con Situs ambiguous con una vena hepática anormal que fue diagnosticado incidentalmente durante un estudio de imagen médica (tomografía computarizada, ecografía y resonancia magnética).

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.

Ivemark syndrome-a rare entity with specific anatomical features / Síndrome de Ivermark. Informe de un caso

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. To our knowledge, complete right heterotaxia syndrome has been rarely described in literature. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development are considered as defects of the primary developmental field. Therefore, additional malformations in IS can be synchronic defects in the primary developmental field rather than causally independent malformations.

El síndrome de Ivermark es un desorden embriológico raro resultante de una falla en el desarrollo de la asimetría izquierda y derecha de los órganos. Usualmente se asocia con anomalías cardíacas y de otros órganos, que son la causa usual de muerte en la vida neonatal. Presentamos una niña de 3 meses con dextrocardia, trasposición de los grandes vasos, comunicación aurículo-ventricular, drenaje anómalo total de la vena pulmonar, isomerismo de la aurícula y pulmón derecho, hígado y vesícula en la línea media, asplenia, malrotación intestinal y anomalías de la vena cava. Una heterotaxia derecha completa ha sido raramente descrita en la literatura. Los defectos de lateralización como situs inverso, asplenia o poli esplenia causados por defectos en el desarrollo izquierda derecha son considerados como defectos del campo de desarrollo primario. Por lo tanto, las manifestaciones adicionales del síndrome de Ivemark pueden ser defectos sincrónicos del campo de desarrollo primario más que malformaciones causalmente independientes.

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.

Incidentally Detected Situs Ambiguous in Adults

Situs ambiguous is rare congenital anomaly in adults. In 2 adult patients who admitted for different cardiac problems, situs ambiguous with polysplenia was detected. A 42-year-old male admitted for radio frequent catheter ablation of atrial fibrillation, and he had left-sided inferior vena cava (IVC), hepatic segment of IVC interruption with hemiazygos continuation, multiple spleens and intestinal malrotation. And in a 52-year-old female case who was hospitalized due to infective endocarditis after implanting pacemaker for sick sinus syndrome, multiple spleens, left-sided stomach, bilateral liver with midline gallbladder, and left-sided IVC were found. Those findings were consistent with situs ambiguous with polysplenia, but their features were distinctive.

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.

A Case of Noncompaction of the Ventricular Myocardium Combined with Situs Ambiguous with Polysplenia

A 33-year-old man was admitted to our hospital with chest pain and exertional dyspnea. Two-dimensional echocardiography showed prominent trabeculations and deep intertrabecular recesses, findings consistent with noncompaction of the ventricular myocardium. Thoracoabdominal CT and cardiac magnetic resonance imaging (CMR) revealed situs ambiguous with polysplenia and noncompaction of the left ventricular myocardium. CMR also demonstrated delayed enhancement of the trabeculations located at the apical portion of the left ventricle. The coronary angiogram was normal. This is the first case of noncompaction of the ventricular myocardium associated with situs ambiguous with polysplenia.