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.

Percutaneous Transluminal Angioplasty for Low Cardiac Output Syndrome due to Superior vena cava Stenosis with Venous Return Anomaly, after Open Heart Surgery for Pacemaker Lead-Induced Endocarditis / 日本心臓血管外科学会雑誌

We report a case of percutaneous transluminal angioplasty (PTA) treatment for low cardiac output syndrome due to superior vena cava (SVC) stenosis with venous return anomaly. A 69-year-old man was referred to our hospital for surgical treatment of tricuspid valve infective endocarditis due to infected pacemaker leads, which had been implanted for sick sinus syndrome. Preoperative computed tomography indicated polysplenia syndrome-related absence of the hepatic segment of the inferior vena cava (IVC). Preoperative coronary angiography showed a 99% stenosis in the left anterior descending artery and a total occlusion in the right coronary artery. We therefore performed pacemaker system removal, tricuspid valve plasty, coronary artery bypass surgery, and a new pacemaker implantation (epicardial leads). However, over the postoperative course we noted low cardiac output syndrome due to SVC syndrome, which appeared to be aggravated by venous return anomaly from the patient's absent IVC hepatic segment. Eight days after the surgery we conducted PTA for SVC syndrome, which notably improved the patient's hemodynamics. The patient recovered and was transferred to a rehabilitation facility 34 days after the surgery.

A Rare Case of Heterotaxy Syndrome: Eisenmenger Syndrome with Dextrocardia in an Adult.

Aims: Heterotaxy syndrome is a rare, complex, and confusing presentation in the realm of situs anomalies. The concurrence of heterotaxy syndrome with dextrocardia and Eisenmenger syndrome has never been reported in an adult. We described, for the first time, an adult patient who had heterotaxy syndrome with dextrocardia, complicated by Eisenmenger syndrome with large ventricular septal defect (VSD). Presentation of Case: A 43 year-old female presented to the emergency room with worsening exertional dyspnea. She carried past medical history of cyanotic congenital heart disease since birth. Her physical examination findings were significant for hypoxia and clubbing with cyanotic fingers and toes, dextrocardia, and a 3/6-holosystolic murmur over the right lower sternal border. Laboratory investigation showed polycythemia andher chest x-ray showed dextrocardia. Echocardiography showed dextrocardia with a dilated left ventricle and a large VSD with left-to-right shunting. Computed tomography (CT) angiogram of the chest showed bilateral bi-lobed lungs with both main stem hyparterial bronchi, right-sided polysplenia, right-sided stomach with left-sided dominant liver. Discussion and Conclusion: Heterotaxy syndrome has a complex variation in clinic presentation. We illustrate the occurrence of heterotaxy syndrome, polysplenia type with Eisenmenger syndrome and dextrocardia. Recognition of this rare anomaly is important for establishing a diagnosis in a patient with multiple organ displacement.

Diagnosis of vena cava connection in patients with polysplenia syndrome by echocardiography / 中华超声影像学杂志

Objective To explore the characteristics of vena cava and pulmonary vena connection in patients with polysplenia syndrome ,and to improve the diagnosis of the polysplenia syndrome by echocardiography .Methods Forty‐five patients with polysplenia syndrome diagnosed by echocardiography were reviewed retrospectively .The characteristics and the frequency of the various types of anomalous connection of vena cava and pulmonary vena were analyzed .Results In 45 patients with polysplenia ,27 cases (60% ) had anomalous connection of superior vena cava ,anomalous inferior vena cava was found in 24 cases (53 3.% ) ,while 22 cases (48 8.% ) were diagnosed with hepatic vein anomalous drainage .Nineteen patients (42 2.% ) had anomalous pulmonary venous ,which partially anomalous venous drainage in 4 (8 9.% ) and total anomalous pulmonary venous drainage occurred in 15 patients (33 3.% ) .Conclusions Polysplenia syndrome often accompanied with anomalous vena cava and pulmonary venous drainage .Echocardiography can effectively diagnose polysplenia syndrome .

An Incidental Finding of Polysplenia Syndrome in a Geriatric Patient: A Case Report.

Polysplenia syndrome is a rare congenital disease characterized by presence of two or more spleens and affection of other asymmetric organs. It is often recognized in childhood and rarely in adulthood. Here we report a case of polysplenia syndrome in an elderly female having multiple accessory spleens, stomach and aorta on right side of abdomen and liver, gallbladder, inferior vena cava and common bile duct on left side of abdomen. She was also having congestive cardiac failure with atrial fibrillation and lumbar vertebra collapse.

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

Heterotaxy syndrome is defined as an abnormal arrangement of some organs and vessels in association with dysmorphism. The authors describe the case of a patient with heterotaxy syndrome with poliesplenia incidentally diagnosed during imaging evaluation (computed tomography and small bowel barium study) of unrelated pathological condition.

Síndrome heterotáxica é definida como um arranjo anormal de alguns órgãos e vasos em associação a dismorfismo. Descrevemos o caso de uma paciente com síndrome heterotáxica diagnosticada incidentalmente durante avaliação por imagem (tomografia computadorizada e radiografia contrastada do intestino delgado) de condição patológica não relacionada.

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.

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.

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.

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 Coarctation of Aorta with Left Isomerism Associated with Inferior Vena Cava Interruption and Polysplenia

A 27-year-old female visited outpatient clinic for the evaluation of palpitation and dyspnea on exertion. Echocardiographic examination including transthoracic and transesophageal echocardiography revealed coarctation of aorta, bicuspid aortic valve, mitral valve prolapse, and sealed-up ventricular septal defect. Further evaluation with computed tomography angiography revealed another combined congenital anomaly of left isomerism with polysplenism and interrupted inferior vena cava and pulmonary embolism with deep vein thrombosis. After corrective surgery for the coarctation, she received anticoagulation therapy for the treatment and the secondary prevention of pulmonary embolism.

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.

Pâncreas curto congênito, poliesplenia e trombose da veia porta: associação ou achado casual / Congenital short pancreas, polysplenia, and portal vein thrombosis: an association or a chance finding

A síndrome de poliesplenia e pâncreas curto é considerada uma anomalia congênita rara, freqüentementeassociada a malformações cardiovasculares e abdominais. Na literatura consultada não foram descritos casos desta síndrome associada à trombose da veia porta com transformação cavernomatosa da mesma. Neste estudo é apresentado o caso de um paciente com síndrome depoliesplenia, pâncreas curto, trombose da veia porta, sendo também observada má-rotação intestinal e interrupção da veia cava inferior com fluxo colateral para a veia ázigos. Enfatiza-se o papeldos métodos de imagem ù trânsito intestinal, tomografia computadorizada e ecografia com Doppler em cores ù no diagnóstico destas anomalias.

Polysplenia syndrome with short pancreas is a rare congenital anomaly usually associated with cardiovascular and abdominal malformations. We describe a patient with this syndrome associated with portal vein thrombosis and cavernous transformation, anassociation that has not been reported before. This patient also had intestinal malrotation and interruption of the inferior vena cava with azygous continuation. Special attention is drawn to the role of imaging studies ù bowel transit, computed tomography andcolor Doppler sonography ù in the diagnosis of these anomalies.

Hemiazygos Continuation of Left Inferior Vena Cava Draining into the Right Atrium via Persistent Left Superior Vena Cava: A Variant of Polysplenia Syndrome Mimicking Aortic Dissection

We report a case of a 58 year-old male with polysplenia and left inferior vena cava draining into the right atrium via hemiazygous vein; the left superior vena cava and the coronary sinus in order. He presented dyspnea on exertion and atrial fibrillation. Originally, through findings of mediastinal widening in chest X-ray and the double lumen of the descending aorta in transesophageal echocardiography, he was erroneously diagnosed with aortic dissection. The anomalous venous connection was discovered via spiral CT and venography. We also found three to five small spleens via CT. We emphasize that normal left superior vena cava mimic aortic dissection on chest X-rays and transesophageal echocardiographys.

Surface ECG Findings of the Patients with Left Isomerism

Surface ECG findings in 29 patients with left isomerism were reviewed. Among the total 46 wave axis distributions, 25(54%) were abnormal axis, not originated from sinus node. Congenital atrioventricular block was found in 2 children. 6 patients showed the bradycardia and junctional escape rhythm intermittently or persistently. 4 of them, not related with heart surgery, were much older than 2 patients who showed these ECG findings after heart surgery. These ECG findings suggested the possibility of occurrence of sinus node or subsidiary pacemaker dysfunction in the patients with left isomerism, especially in the older patients. So we thought that electrophysiologic evaluation is necessary in some patients with left isomerism.