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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,...
Similar publications
Heterotaxy Syndrome is a rare Syndrome with abnormal arrangement of organs across the left-right axis of body with complex cardiac manifestations and altered extra cardiac anatomy. It is highly recommended to clinicians to look investigate and look into various features of heterotaxy if they come across a case of atrial isomerism.
Citations
... While the prevalence of both heterotaxy and situs inversus is roughly 0.01% of live births, those with situs inversus do not often experience fatal organ dysfunction when compared with heterotaxy due to conserved organ-vessel morphology. 1 In patients with heterotaxy syndrome, abnormal developmental symmetry may be described by the presence of two same-sided, or isomeric, atria and atrial appendages in the cardiac anatomy, known as left or right atrial isomerism. 2 Variations in cardiac position-levocardia, mesocardia, dextrocardiaare frequently observed but malposition does not correlate with the type of isomerism. ...
Heterotaxy syndrome is a rare congenital defect of left-right laterality of major visceral organs, often categorised by the presence of symmetric left or right atrial heart chambers with a single effective ventricle. Known as left or right atrial isomerism, these conditions may present with a distinct pattern of extracardiac anomalies. Heterotaxy is often palliated with the Fontan procedure and is suggested to be subject to similar long-term sequelae of congestive hepatopathy and ischaemia, increasing the risk for hepatocellular carcinoma. Few works document primary, localised hepatocellular carcinoma in patients with heterotaxy syndrome. We present a case of diffuse, multifocal metastatic hepatocellular carcinoma in a young patient with left atrial isomerism and dextrocardia. We also review suggested guidelines of surveillance for liver disease and hepatocellular carcinoma in this patient population.
... Although patients with left isomerism have a better prognosis than those with right isomerism, mortality and morbidity remain a point of concern [3]. Patients with complex cardiac lesions have a one-year mortality of 85% if they present with asplenia and greater than 50% if they present with polysplenia [7]. Early surgical intervention is critical for those within this population that have substantial cardiac and gastrointestinal abnormalities as it improves early survival, but despite interventions, late morbidity and mortality remains high [8]. ...
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." She presented to the emergency room with intractable pain in the left lower quadrant and left flank for two days. Heterotaxy syndrome was found incidentally on CT scan of the abdomen/pelvis (plain). She was further evaluated with chest X-ray, magnetic resonance imaging of abdomen/pelvis without and with contrast, transvaginal ultrasonography, renal/bladder ultrasonography, left upper quadrant (LUQ) ultrasonography, esophagogastroduodenoscopy (EGD) with biopsy, 2D echocardiogram, and pertinent laboratory tests. Certain unusual findings included azygos continuation of the inferior vena cava (IVC), numerous spleens, atrophic pancreas, dilatation of duodenal C sweep, pelvic mass (possibly arising from right ovary), multiple nabothian cysts, and cardiac dysfunctions (such as severe mitral regurgitation). This report further aims to identify anatomic variants, previously established or otherwise not, in heterotaxy syndrome. Also, there seems to be a lack of identifiable anomalies or associations in regard to female anatomy, particular to this case being the female pelvic anatomy. As previous reports and research have stated, identification of anomalies in this syndrome is key for adequate and optimal management.
... Heterotaxy is a rare condition in which the internal thoraco-abdominal organs and vascular structures show abnormal arrangement in the left-right axis of the body (1). As being the part of heterotaxy syndrome, polysplenia refers to presence multiple splenules without a parent spleen (2). ...
Heterotaxy syndrome (situs ambiguus) is a rare condition in which the internal organs are abnormally arranged in the chest and abdomen. It occurs from an early embryological developmental disturbance with most cases being sporadic. In this report, we present a case of a 43-year-old female with heterotaxy syndrome who had anomalous right renal artery of high origin and preduodenal portal vein, anomalous orientation of the third portion of the duodenum causing intermittent symptoms and abnormal localization of intestinal and colonic segments. To the best of our knowledge, this the first report of association of these anomalies with heterotaxy syndrome.
... This arrangement is different from the orderly arrangement seen in situs solitus and situs inversus. 9,13 The incidence of situs ambiguus is between 1:10000 and 1:20000 births 2 and is usually associated with complex heart malformations. Malformations in other organs can also be found. ...
... Heterotaxy can be grouped into two major classes of asplenia and polysplenia syndrome or heterotaxy with right isomerism and heterotaxy with left isomerism [8]. In left isomerism or polysplenia syndrome, patients have isomeric left atrial appendages, bilaterally bilobed lungs, and multiple spleens [6,8]. ...
... Heterotaxy can be grouped into two major classes of asplenia and polysplenia syndrome or heterotaxy with right isomerism and heterotaxy with left isomerism [8]. In left isomerism or polysplenia syndrome, patients have isomeric left atrial appendages, bilaterally bilobed lungs, and multiple spleens [6,8]. Patients with right isomerism have bilateral trilobed lungs with bilateral minor fissures and eparterial bronchi, double right atria, a centrally located liver, and a stomach in determinate position, and they lack a spleen [6,8]. ...
... In left isomerism or polysplenia syndrome, patients have isomeric left atrial appendages, bilaterally bilobed lungs, and multiple spleens [6,8]. Patients with right isomerism have bilateral trilobed lungs with bilateral minor fissures and eparterial bronchi, double right atria, a centrally located liver, and a stomach in determinate position, and they lack a spleen [6,8]. ...
Background
Congenital cardiac defects are not rare among neonates. Prompt assessment for life-threatening anomalies is essential for rapid management decisions and positive outcomes. Extracardiac anomalies can occur in congenital heart defects, and their presence increases morbidity and mortality in these neonates.
Case presentation
We report a case of a 31- month-old infant black girl in Tanzania who presented with an on-and-off history of difficulty in breathing, easy fatigability, facial and lower-limb swelling, recurrent respiratory tract infections, and failure to thrive.
Conclusions
Management of patients with heterotaxy syndrome is complex and largely depends on specific anatomy of both cardiac and noncardiac lesions. Cardiac and noncardiac management must be tailored to individual anatomy, including prophylaxis against encapsulated organisms for asplenic patients.
... In humans, complete L/R reversal of internal organ structure (situs inversus totalis) occurs in rare individuals, generally with no known ill consequences. However, disruption of internal organ asymmetries can result in birth defects with varying severity, most notably in cases in which two or more organs deviate from the canonical structure or position [28], a condition known as heterotaxy, which is frequently associated with ciliopathies [29,30]. ...
... Such naturally occurring heterotaxy in C. elegans, exceeding a rate of 10% in some natural isolates, is substantially greater than the prevalence of heterotaxy for the human population, which has been estimated to be one in 15 000 [65]. However, it is interesting to note that, as we have observed with different isolates of C. elegans, the prevalence of heterotaxy varies substantially between different groups of humans, [28], with a higher prevalence among individuals of Asian descent. Thus, the developmental fidelity of L/R organ packing is subject to substantial variation across different populations of these phylogenetically widely separated species. ...
Although the arrangement of internal organs in most metazoans is profoundly left–right (L/R) asymmetric with a predominant handedness, rare individuals show full (mirror-symmetric) or partial (heterotaxy) reversals. While the nematode Caenorhabditis elegans is known for its highly determinate development, including stereotyped L/R organ handedness, we found that L/R asymmetry of the major organs, the gut and gonad, varies among natural isolates of the species in both males and hermaphrodites. In hermaphrodites, heterotaxy can involve one or both bilaterally asymmetric gonad arms. Male heterotaxy is probably not attributable to relaxed selection in this hermaphroditic species, as it is also seen in gonochoristic Caenorhabditis species. Heterotaxy increases in many isolates at elevated temperature, with one showing a pregastrulation temperature-sensitive period, suggesting a very early embryonic or germline effect on this much later developmental outcome. A genome-wide association study of 100 isolates showed that male heterotaxy is associated with three genomic regions. Analysis of recombinant inbred lines suggests that a small number of loci are responsible for the observed variation. These findings reveal that heterotaxy is a widely varying quantitative trait in an animal with an otherwise highly stereotyped anatomy, demonstrating unexpected plasticity in an L/R arrangement of the major organs even in a simple animal.
This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.
... The prognosis is poor for patients with cardiac defects: the 1-year mortality rate is >85% in patients with asplenia and >50% in patients with polysplenia. 1 Nearly all infants with right isomerism have a pulmonary outflow obstruction. 2 They often present at birth with cyanosis because of a large right-to-left shunt exacerbated by the pulmonary outflow obstruction. Many cases are diagnosed antenatally by a late second trimester ultrasound. ...
... The 1-year survival rate of patients with heterotaxy syndrome with CHD and asplenia is only 15% compared to approximately 50% in patients with CHD with polysplenia. 2 The most common congenital cardiovascular defects in patients with heterotaxy syndrome are atrioventricular septal defects, ventricular septal defects, pulmonary stenosis, pulmonary atresia, bilateral superior vena cava, double outlet ventricles, anomalous venous return, transposition of the great vessels, and patent ductus arteriosus. [4][5][6] Given the higher incidence of pulmonary outflow tract obstruction and resulting right-to-left shunting in patients with right isomerism, cyanosis most often manifests at birth. ...
Background:
Heterotaxy syndrome, also called isomerism, is a condition in which abdominal and thoracic organs are located in abnormal body positions. Pulmonary hypertension (PHTN) is an uncommon clinical feature of heterotaxy syndrome.
Case report:
We describe the case of a 26-year-old male who developed PHTN as a rare manifestation of heterotaxy syndrome. To our knowledge, PHTN has never been reported as a prominent clinical feature in a patient with heterotaxy syndome and congenital cardiac abnormalities.
Conclusion:
It is important for the clinician to be aware of potentially serious consequences of PHTN in the setting of heterotaxy syndrome.
... Recently Ota et al. reported an improved outcome of surgical management of right isomerism in which the five year survival had improved from 53.8% before 2003 to 81.7% after 2004 [7]. Although there are few reports of improved survival after a modified Fontan operation for heterotaxy syndrome [8,9] we needed to investigate the interstage mortality for these patients. The purpose of this study was to determine the interstage mortality for single ventricle patients with heterotaxy syndrome and compare it to that for nonheterotaxy syndrome. ...
Background
In spite of improved survival after palliation for single ventricle, interstage mortality for a single ventricle with heterotaxy syndrome is unknown. The purpose of this study was to quantify interstage mortality and influence mortality risk factors.
Methods
From November 1994 until February 2012, all patients that had a functional single ventricle and heterotaxy syndrome who underwent palliative operations at our center were included. Patients with hypoplastic left heart syndrome and operative mortality cases were excluded. The factors that influenced interstage mortality were determined by multivariate Cox analysis.
Results
There were 16 patients with interstage mortality (41.0%), much higher than the non-heterotaxy group (vs. 11.3%, P = 0.001, OR = 5.478). The major presumptive causes of death were infection or sepsis (37.5%) and unknown sudden death (31.3%). When we compared the survival group and the mortality group with heterotaxy syndrome, Blalock-Taussig shunt as a 1st palliation is most common for both groups but there were more for the mortality group (81.2% vs. 52.2%), and there were more with bidirectional cavo-pulmonary shunt as a 1st palliation in the survival group (10 patients vs. 2 patients). The existence of pulmonary vein stenosis at initial diagnosis was more common for the mortality group. In multivariate Cox analysis, however, the duration of hospitalization at palliation, the duration of intensive care unit stay after palliation and the existence of pulmonary vein stenosis at diagnosis were significant risk factors.
Conclusion
Interstage mortality for a functional single ventricle with heterotaxy syndrome is significantly higher than for non-heterotaxy syndrome. Therefore more attention should be given to the prevention of interstage mortality in these patients with risk factors.
Introduction: Polysplenia syndrome is a very rare congenital condition with multifactorial inheritance. It is characterized by the malposition of the thoracic and abdominal organs with or without vascular abnormalities. It comprises multiple cardiac, gastrointestinal, hepatosplenic, pancreatic and renal disorders. It is usually an incidental finding on an abdominal ultrasound or computed tomography (CT) scan performed for other reasons. Patient review: In this case, an 85-year-old male patient is presented, who tested positive for coronavirus disease 2019 (COVID-19) infection, and he was admitted to hospital for bilateral COVID-19 pneumonia. CT scan was performed and revealed polysplenia, various vascular abnormalities, gastrointestinal malformations and agenesis of the dorsal pancreas, so heterotaxy syndrome was diagnosed. Interestingly, this patient did not have diabetes mellitus in spite of agenesis of the dorsal pancreas, neither had he ever have pancreatitis. Conclusion: This present case shows that the quality of life in patients with polysplenia syndrome does not have to be seriously impaired and that these patients can experience old age. Moreover, the awareness and prior knowledge of anomalies included in this syndrome are crucial in order to avoid complications during surgical procedures and/or interventions.
Heterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs. This report describes the case of a 39-year-old female, previously well, who presented with bowel obstruction. CT showed features of left isomerism, with malrotation and volvulus.Contribution: Heterotaxy syndrome consists of cardiac and non-cardiac manifestations. Imaging studies play a crucial role in the individualised management of the patient.
