Heterotaxy polysplenia syndrome

The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review the available literature on hepatobiliary pathologies associated with this syndrome. We present the case of an 82-year-old female patient with multiple comorbidities who presented to our hospital with abdominal pain and jaundice. An abdominal ultrasound and subsequent computed tomography showed several obstructive choledocholithiases. Incidentally, an abnormal visceral arrangement consistent with HS with polysplenia was observed, including midline liver, semi-annular pancreas, intestinal malrotation, preduodenal portal vein and other vascular anomalies...

Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of the right or left atrial appendage. The cause remains unexplained and is attributed to a combination of genetic mutations and environmental factors. It is a rare condition and may remain undiagnosed for a long time. In this report, we aim to highlight an unusual presentation and aggravation of an infection due to the underlying isomerism of the left atrial appendage...

Deep venous thrombosis is a hitherto under-recognized complication occurring in patients with polysplenia syndrome, despite the high prevalence of venous anomalies such as interrupted inferior vena cava (IVC) with azygos/hemiazygos continuation. Here we report the first case of concurrent polysplenia (as evidenced by interrupted IVC with azygos/hemiazygos continuation, multiple left-sided spleens, bowel malrotation with inverted mesenteric veins, preduodenal portal vein, and pancreatic hypoplasia/partial agenesis of the dorsal pancreas) and sickle cell trait, complicated by extensive deep venous thrombosis refractory to medical and interventional radiologic management...

Laterality defects (LDs) or asymmetrically positioned organs are a group of rare developmental disorders caused by environmental and/or genetic factors. However, the exact molecular pathophysiology of LD is not yet fully characterised. In this context, studying Arab population presents an ideal opportunity to discover the novel molecular basis of diseases owing to the high rate of consanguinity and genetic disorders. Therefore, in the present study, we studied the molecular basis of LD in Arab patients, using next-generation sequencing method...

Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Proper counseling to the family about the disease course, treatment modalities, and outcomes is essential.

Introduction: Situs ambiguous known as heterotaxy syndrome or isomerism can be classified into situs ambiguous with polysplenia or asplenia. Situs ambiguous with asplenia is a second subcategory of situs ambiguous that is generally characterized by an abnormal arrangement of the abdominal organs and absence of the spleen. Laparoscopic cholecystectomy for acute cholecystitis in patient with this disorder is challenging. Methods: A 19-year-old female patient was a situs ambiguous with asplenia patient with transverse liver with gallbladder, left-side stomach, congenital heart disease, and right isomerism...

Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins...

Heterotaxy refers to a congenital disorder in which there is a disruption of the normal left-right axis, resulting in duplication of one laterality, and can affect all of the thoracic and abdominal organs. Findings include atrial isomerism, vascular abnormalities affecting the great vessels, ciliary dyskinesia, polysplenia or asplenia, biliary atresia, and gut malrotation. These anomalies can present unique challenges in the critical care setting, particularly in those requiring mechanical circulatory support...

Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body. It is generally classified as right and left atrial isomerism or asplenia and polysplenia syndrome, even though there are overlaps and uncertainties. The diagnosis of isomerism is typically made by echocardiography. However, multidetector computed tomography and MRI can help in obtaining detailed data on the morphology of the heart, great vessels, the anatomy of the internal organs, and their mutual arrangement that make an accurate diagnosis of heterotaxy syndrome...

Background: Heterotaxy syndrome is associated with a plethora of cardiovascular and other multi-system anomalies with a high childhood mortality. A dilated azygos vein as part of the polysplenia variant of heterotaxy syndrome may cause oesophageal stenosis owing to a prolonged compression. We describe our technique of extramediastinal oesophago-oesophagostomy in the prone position for this rare congenital syndromic malformation with an excellent outcome. Patients and Methods: A 17-year-old boy with heterotaxy syndrome presented with intermittent dysphagia and postprandial emesis with failure to thrive...

OBJECTIVES: Intestinal malrotation is largely a pediatric diagnosis, but initial detection can be made in adulthood. CT colonography (CTC) provides an ideal means for estimating prevalence. Our purpose was to evaluate the prevalence and imaging findings of intestinal malrotation in asymptomatic adults at CTC screening, as well as incomplete optical colonoscopy (OC) referral. METHODS: The CTC database of a single academic institution was searched for cases of intestinal malrotation (developmental nonrotation)...

We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses towards biliary cirrhosis, end-stage liver failure and death by age 3. Differentiation of biliary atresia from other nonsurgical causes of neonatal cholestasis is challenging because there is no single method for diagnosing biliary atresia, and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis...

INTRODUCTION: This is a case report that presents an unusual case of Polysplenia Syndrome (PSP) undergoing laparoscopic sleeve gastrectomy (LSG). This kind of presentation would be of interest to general surgeons who perform bariatric surgery. PRESENTATION OF CASE: The case presented is a 28-year-old female patient who was not a known case of Polysplenia Syndrome. During the patients' pre-operative assessment, physical examination was done and a type of heterotaxy syndrome was suspected upon palpation of the stomach...

BACKGROUND: Long-term outcomes in heterotaxy syndrome (HS) are poorly described. Some reports suggest improved survival in the recent era, whereas others do not. We sought to describe long-term outcomes and assess whether outcomes have changed over time. METHODS: Patients with HS born between 1985 and 2014 who had cardiac care (except initial palliation) at our institution were divided into 4 birth eras and survival over time was compared. Independent risk factors for mortality were identified by using Cox proportional hazards regression...

BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e...

Polysplenia is heterotaxy syndrome or bilateral left-sidedness. We report a case of polysplenia syndrome in order to draw attention to this rare syndrome that must be excluded in an infant presenting with congenital heart disease and intestinal malformations.

We report an unusual case of a 15-month old previously healthy girl who died of pneumococcal septicemia in the background of visceral heterotaxy with polysplenia. Heterotaxy can also present with asplenia whereas polysplenia cases usually present with functional asplenia. Of particular note, this girl received the 13-valent pneumococcal conjugate vaccine as recommended by the Centers for Disease Control and Prevention in the routine pediatric immunization schedule used in the USA and Canada. Unfortunately, although the strain causing death (serotype 22F) is not contained in Prevnar 13®, it is in the 23-valent pneumococcal polysaccharide vaccine (e...

Heterotaxy syndrome (Situs ambiguus) is a condition in which the internal organs are abnormally arranged in the chest and abdomen. Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. Unlike situs inversus, it often causes serious health problems. This report describes a case of a 49-year-old Hispanic female with a significant medical history of situs ambiguous diagnosed at birth in Cuba. She has had little to no follow-up in adulthood due to being "healthy...

Situs ambiguous or heterotaxy syndrome is defined as the abnormal arrangement of organs and vessels within the body. Herein, we present an 8-year-old girl with growing right-sided suprarenal masses mimicking adrenal tumors. Technetium-99-m-radiolabeled red blood cells' planar images were inconclusive for the diagnosis of splenic tissue in the right side. Single-photon emission computed tomography/computed tomography imaging clearly identified right-sided functioning spleens and confirmed the diagnosis of situs ambiguous with polysplenia...

We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA). Although LAI is usually associated with complex cardiac and extracardiac anomalies, the association of LAI and right atrial appendage aneurysm (RAAA) is exceptional. Congenital RAAA itself is an idiopathic, very rare cardiac anomaly characterized by the enlargement of the appendage in the absence of any other cardiac or extra-cardiac defect...