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.

Heterotaxy syndrome with agenesis of dorsal pancreas and diabetes mellitus: case report and review of the literature

SUMMARY Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Patients present with multiple cardiac, gastrointestinal, hepatosplenic, pancreatic, renal, neurological and skeletal disorders without any pathognomonic alteration. Despite the described increased risk of diabetes mellitus (DM) in patients with altered pancreatic anatomy, just one case was reported in Korea regarding the association of HS and DM in a 13-year-old girl. Our report refers to a 40-year-old female Brazilian patient with a history of DM and HS with polysplenia and agenesis of dorsal pancreas without cardiac abnormalities. She presented a worsening glycemic control associated with weight gain and signs of insulin resistance. After a proper clinical management of insulin and oral medications, our patient developed an improvement in glycemic control. Although it is a rare disease, HS with polysplenia and pancreatic disorders can be associated with an increased risk of DM. This case highlights the importance of investigating DM in patients with HS, especially those with pancreatic anatomical disorders, for proper clinical management of this rare condition.

Isomerismo derecho (síndrome de ivemark): presentación de un caso / Right isomerism (ivemark syndrome): presentation of a case

El Síndrome de Ivemark se clasifica como un trastorno de Heterotaxia o un trastorno de lateralidad de baja incidencia, que debuta con manifestaciones clínicas caracterizados por latidos cardiacos a la derecha y asplenia entre otras malformaciones, se puede asociar a un patrón de herencia autosómico recesivo que es el más frecuente. Se destaca que entre las malformaciones más frecuentes del aparato digestivo se encuentra la mal rotación intestinal la cual fue descartada y los signos de distensión abdominal y mala tolerancia alimentaria se debió a la descompensación gradual del paciente. El diagnóstico prenatal mediante la ecocardiografía es pieza clave en el manejo posterior del paciente, debido que permite programar su nacimiento en centros de III nivel, por su alta complejidad y requerimiento de cirugía cardiotorácica, el manejo terapéutico de asplenia determina el pronóstico del paciente.

The Ivemark Syndrome is classified as a Heterotaxia disorder or a low incidence laterality disorder, which debuts with the clinical characteristics for right heartbeats and asplenia among other malformations, it can be associated with an autosomal recessive inheritance pattern that is the most frequent It is emphasized that the most frequent, malformations of the digestive system are in the phase of abdominal rotation that the discarded and the signs of abdominal distension and food intolerance were due to the gradual decompensation of the patient. Prenatal diagnosis through echocardiography is the key to the management of the birth of the patient, which allows to schedule its birth in the centers of III level, for its high complexity and requirement of cardiothoracic surgery, the therapeutic management of Asplenia determines the prognosis of the patient.

Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.

Clinical Characteristics and Independent Factors Related to Long-Term Outcomes in Patients with Left Isomerism

BACKGROUND AND OBJECTIVES: We studied the results of patient management for left isomerism (LI) and sought to determine factors that may influence survival and prognosis. SUBJECTS AND METHODS: We reviewed the medical records of 76 patients who were compatible with LI criteria between 1982 and 2014. RESULTS: Of the total study population, 29 patients (38.1%) had functional univentricular heart disease, 43 patients (56.5%) had cardiac anomalies suitable for biventricular hearts, and four patients (5.2%) had normal heart structure. Extracardiac anomalies were noted in 38.1% of the study population, including biliary atresia in 7.8% of all patients. Of the 25 patients who underwent Kawashima procedures, 24.0% developed pulmonary arteriovenous fistulas (PAVFs). During the median follow-up period of 11.4 years (range: 1 day to 32 years), 14 patients died. The 10-year, 20-year, and 30-year survival rates were 87%, 84%, and 76%, respectively. Preoperative dysrhythmia and uncorrected atrioventricular valve regurgitation were significantly associated with late death. There was no significant difference in the number of surgical procedures and in survival expectancy between patients in the functional single-ventricle group and in the biventricular group. However, late mortality was higher in functional single-ventricle patients after 18 years of age. CONCLUSION: Patients with LI need to be carefully followed, not only for late cardiovascular problems such as dysrhythmia, valve regurgitation, and the development of PAVFs, but also for noncardiac systemic manifestations.

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).

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.

Prenatal diagnosis of atrial isomerism in the Korean population

OBJECTIVE: To report our experiences in the prenatal diagnosis of atrial isomerism and postnatal outcomes. METHODS: A total of 80 fetuses prenatally diagnosed with atrial isomerism were retrospectively analyzed between 1999 and 2011 at a single institution. RESULTS: Of 43 fetuses with prenatally diagnosed right atrial isomerism (RAI), 40 cases were analyzed. The diagnostic accuracy was 93%. The main intracardiac anomalies in RAI were atrioventricular septal defect (AVSD), abnormal pulmonary venous connection, bilateral superior vena cava (BSVC), and pulmonary atresia. Among 28 live births, three infants were lost to follow up, and the overall survival rate was 60%. Of 37 fetuses with prenatally diagnosed left atrial isomerism (LAI), 35 were evaluated. The diagnostic accuracy was 97%. The main intracardiac anomalies in LAI were ventricular septal defect, BSVC, AVSD, double outlet right ventricle, and bradyarrhythmia. Among seven patients with bradyarrhythmia, only one showed a complete atrioventricular block. All fetuses had an interrupted inferior vena cava with azygous continuation. The overall survival rate was 90%. CONCLUSION: Our study confirms the previous findings of fetal atrial isomerism. We also demonstrates a much lower prevalence of AVSD and complete heart block in LAI and a better survival rate in RAI. Although the postnatal outcomes for RAI were worse than those for LAI, successful postnatal surgery with active management improved the survival rate.

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.

A Case of Unusual Visceral Heterotaxy Syndrome with Isolated Levocardia

Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This rare condition is commonly associated with severe congenital defects of the heart. We report a case of situs inversus with levocardia in a 19-year-old asymptomatic male patient with completely normal heart on the left chest. Spiral computed tomography of the thorax and abdomen and echocardiographic studies revealed situs inversus of abdominal organs, normal heart (levocardia), mirrored left lungs, a midline liver, a left-sided inferior vena cava connecting to the right atrium, multiple splenic masses in the abdominal right upper quadrant, and aneurysmal dilatation of a splenic artery.

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.

Polysplenia Syndrome with Congenital Agenesis of Dorsal Pancreas Presenting as Acute Pancreatitis and the Role of Endoscopic Ultrasonography in Its Diagnosis / 대한소화기학회지

A 49-year-old female was admitted to our hospital for acute pancreatitis. The abdomen CT scan incidentally showed midline liver with hepatomegaly, centrally located gallbladder, pancreas truncation, right sided small bowel, left sided large bowel, interruption of the inferior vena cava with azygos continuation, preduodenal portal vein, and multiple spleens in the left upper quadrant. In MRCP, the head of pancreas was enlarged and short main pancreatic duct without accessory duct was showed. EUS revealed enlarged ventral pancreas with a main pancreatic duct of normal caliber, absence of the accessory pancreatic duct and the dorsal pancreas. She was diagnosed as polysplenia syndrome with agenesis of dorsal pancreas. It is a rare congenital anomaly frequently associated with various visceral anomalies including multiple spleens, impaired visceral lateralization, congenital heart diseases, gastrointestinal abnormalities and azygos continuation of the inferior vena cava. We report a case of polysplenia syndrome with agenesis of dorsal pancreas presenting acute pancreatitis.

Heterotaxy Syndrome

Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Treatment of patients with isomerism is determined by the nature and severity of the associated cardiac and extracardiac lesions. Most cardiac operations for patients with isomerism are palliative in nature, since normal anatomy is rarely achieved and mortality rates remain high for patients with heterotaxy syndrome. Patients with left isomerism in general have less severe cardiac malformations than those with right isomerism and, hence, more chance of biventricular repair. For almost all patients with right isomerism, and for many with left isomerism, biventricular repair will not be feasible, and all palliative protocols are then staging procedures prior to a Fontan-type repair. Recent advances in medical management, and improvements in surgical techniques have resulted in improved survival for these patients, and the surgical outcomes are comparable to those with Fontan circulation irrespective of the presence or absence of heterotaxy.

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.

Clinical significance of persistent left superior vena cava diagnosed in fetal life / 대한산부인과학회지

OBJECTIVE: To determine the clinical significance of persistent left superior vena cava (PLSVC) in a fetus with and without cardiac and extra-cardiac anomalies. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally at our institution between May 2001 and May 2008. This retrospective study included 85 fetuses with PLSVC who were diagnosed based on the presence of an additional vessel identified to the left of the pulmonary artery in the three-vessel view of the heart. Patient charts and recorded images were reviewed in order to identify associated conditions and outcomes. Telephone interviews were conducted to check patients' conditions in cases of isolated PLSVC. RESULTS: Eighty-five cases of PLSVC were detected prenatally during this study period. Of these 85 fetuses, 11 were aborted due to associated, prenatally proven, severe congenital heart anomalies or chromosomal anomalies, and 52 fetuses were delivered. The cases for other 22 fetuses were lost to follow-up. Postnatal echocardiography was performed in the 33, surviving patients, and PLSVC was confirmed in 32 of these patients. The most common associated congenital cardiac anomalies were seen included VSD, AVSD, and DORV (54.1%, 17.6% and 17.6%, respectively) (Table 3). PLSVC was also seen in seven cases (8.2%) of right isomerism and in four cases (4.7%) of left isomerism. In only two cases was the coexistence of PLSVC and extra-cardiac anomalies noted in this study. Fifteen cases were prenatally diagnosed as isolated PLSVC and all of them had live births. The follow-up period in our isolated PLSVC patients ranged from 0.5 to 84 months (Mean 24.5 months). Thirteen of these infants were doing well at the time of preparing this document and one case was diagnosed as TAPVR on postnatal echocardiography and one case was lost to follow-up. CONCLUSION: We strongly suggest that PLSVC is a benign vascular malformation and does not affect to the patient after birth. However, PLSVC is frequently associated with heterotaxy syndromes as well as other cardiac malformations and can be misdiagnosed as TAPVR. So if we find PLSVC in prenatal ultrasonography, meticulous inspection of the fetal anatomy must be performed.

Aggressive Surgical Treatment for Complex Cardiac Anomalies Associated with Right Atrial Isomerism / 대한흉부외과학회지

A 3 month old female baby, who had been diagnosed with right atrial isomerism associated with total anomalous pulmonary venous return (TAPVR), a functional single ventricle and major aortopulmonary collateral arteries (MAPCA), underwent left MAPCA unifocalization and left Blalock-Taussig shunt (3.5 mm) at 3 months of age. The postoperative course was complicated by pulmonary venous congestion, and the drainage site of the TAPVR was found to be stenotic on echocardiography. We performed sutureless repair of the TAPVR along with unifocalization of the right MAPCA. She was put on an extracorporeal membrane oxygenator for 8 days after the 2nd operation, and she was able to come off the oxygenator with the placement of a central shunt (3 mm). She developed tracheal stenosis, which was presumably due to longstanding endotracheal intubation, and she then underwent tracheostomy. She was discharged to home on day 104 after the 1st operation, and she has been followed up for 2 months in a good clinical condition.