多脾综合征

… The polysplenia cases were predominantly female and survived longer. … in polysplenia were less severe than they were in asplenia and therefore the prognosis in the former syndrome …

… The prognosis is better than for the asplenia syndrome, in which 90% of patients died by 1 year of age . We believe the anomalies found in patients with polysplenia syndrome support …

… In conclusion, polysplenia syndrome is a rare congenital anomaly that may be found incidentally in adults who undergo abdominal CT. It is important to recognize the findings that may …

… In conclusion, polysplenia syndrome is a complex syndrome with a broad spectrum of abnormalities, the most common of which are multiple spleens and IVC interruption. Variable …

… intestinal abnormalities are also components of the polysplenia syndrome. … polysplenia with asplenia and the two are related clinically and pathologically. The polysplenia syndrome is …

Three cases of polysplenia were diagnosed by visceral arteriography. Each patient had a common celiacomesenteric artery. The origin of supply to the dislocated splenic lobules was …

… of patients with asplenia or polysplenia (spectrum of heterotaxia) syndrome and have made … We reviewed our experience with asplenia/ polysplenia syndrome. focusing on patients with …

… will fail in children with BA associated with polysplenia syndrome,‘,’ the Kasai operation may … transplantation may be successfully used in infants with BA and the polysplenia syndrome. …

… Polysplenia syndrome is a rare … with polysplenia syndrome. A patient with numerous congenital anomalies including short pancreas and PPV in association with polysplenia syndrome …

… The polysplenic syndrome is defined by the presence of … as a form of the polysplenic syndrome. Splenosis, an acquired rather … The syndrome of polysplenia is often accompanied by a …

… in 10 patients with polysplenia syndrome. The heterozygous transition c.… to biliary atresia splenic malformation syndrome. … recognized under the term “polysplenia syndrome” or “biliary …

… of the portal vein in these syndromes. Increased awareness of such anatomical … in polysplenia syndromes. We have reported one such unusual presentation of polysplenia syndrome …

AIMS To report a case of polysplenia syndrome (PSS) in an adult patient. BACKGROUND The PSS is a form of situs ambiguous with multiple spleen, cardiac anomalies, abdominal heterotaxia, short pancreas, major venous system and bronquial malformations. It is a rare syndrome, more often found in childhood, and only the 10% of the patients that do not have cardiac anomalies can reach adulthood. RESULTS A 56 y/o male with obstructive jaundice and intestinal obstruction who was submitted to an abdominal laparotomy suspecting cholangiocarcinoma. He had choledocolithiasis, duodenal kinking by a preduodenal portal vein, intestinal levorotation, hypoplasic vena cava with a prominent acigos vein, short pancreas and polysplenia. A cholecistectomy, biliodigestive and gastroyeyunal bypasses were performed without any complications and with a successful evolution. CONCLUSIONS In conclusion, PSS is a rare hereditary syndrome that often occurs in childhood and its discovery in an adult is frequently fortuitus. Surgical treatment is an excellent therapeutic option, however is reserved just for complications. The outcome is good and the final evolution depends on the degree of the cardiac anomalies.

… biliary atresia and polysplenia syndrome who were treated using the Kasai operation and liver transplantation. We studied (1) the impact of polysplenia syndrome on the outcome of …

Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn't showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.

The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome.

… (23 patients) or polysplenia (26 patients) syndromes underwent a … Lower mortality was seen in patients with polysplenia (24%) … with asplenia or polysplenia syndromes hasresulted in a …

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.

US images of the left upper quadrant demon-strated a prominent left lobe of the liver creating a window to the splenic bed (Fig 1). A normal spleen, however, was not identified, and in its …

… of the prenatal diagnosis of left isomerism and to assess … In infants, minimum diagnostic criteria for left isomerism require … , left isomerism of the atrial appendages, left isomerism of the …

Use of correct nomenclature is important in all aspects of medicine. Many of the controversies that have bedeviled paediatric cardiology have devolved from the inappropriate use of words to describe the lesions to be found when the heart is congenitally abnormal. A continuing area of disagreement is the situation currently described by many as representing “heterotaxy”. When used literally, this word means any departure from the normal. Thus, all congenitally malformed hearts represent examples of heterotaxy. By convention, nonetheless, the term is used to describe the arrangement in which the bodily organs, including parts of the heart, are not in their usual or in their mirror-imaged patterns. The arrangements, therefore, represent the presence of the organs on the right and left sides of the body being mirror imaged, in other words isomeric; however, not all the organs are uniformly isomeric. In this review, we show that, when assessed on the basis of the morphology of the atrial appendages, specifically the extent of the pectinate muscles relative to the atrioventricular junctions, isomerism is an unequivocal finding within the heart. Only the atrial appendages, however, are truly isomeric. The potential problem of disharmony between the various systems of organs is resolved simply by accounting specifically for each of the systems. On these bases, we suggest that the isomeric arrangements can now readily be diagnosed in the clinical setting, and differentiated into their right and left isomeric variants. We propose that such distinctions will provide the key for establishing the genetic cues responsible for the formation of the isomeric as opposed to the lateralised arrangements.

… left and right isomerism have been described.8-14 In left isomerism there are bilateral left atria1 … Frequency of occurrence: We found 27 cases of left isomerism and 24 of right isomerism. …

Objective: To describe the cardiac anomalies and outcome in the fetus with left atrial isomerism. Methods: All fetuses with a diagnosis of left atrial isomerism between 1998 and 2008 were identified. Gestational age at diagnosis, the nuchal translucency, the karyotype, the cardiac findings and outcome were noted. A literature search from 1990 identified four publications reporting 10 or more cases of fetal left atrial isomerism. The same data, where available, were collected from these papers for comparison. Results: There were 41 fetuses with this diagnosis seen in our centre. All cases had an interrupted inferior vena cava with azygous continuation. Associated cardiac defects were similar in our series and in the 129 cases reported in the literature and are therefore grouped together. They included complete atrioventricular septal defect (68%), complete heart block (38%), viscerocardiac heterotaxy (54%), double outlet right ventricle (23%), right ventricular outflow tract obstruction (35%), left ventricular outflow tract obstruction (21%) and total anomalous pulmonary vein drainage (5%). In our series, there were 22 pregnancy terminations, seven intrauterine deaths, one neonatal death, one infant death and one was lost to follow-up. Of the continuing pregnancies only 50% in our series and 60% in the reported series survived. Conclusion: Left atrial isomerism presents a varied spectrum of cardiac malformations when it is detected prenatally. Complete heart block, complex cardiac abnormalities and fetal hydrops are poor prognostic features. Those with only minor cardiac malformations are at risk postnatally for biliary atresia and for bowel obstruction due to malrotation.

… of individuals with left isomerism. Further influence of the presence of isomerism on nomenclature … The ventricular mass itself does not show any evidence of isomerism. But, when each …

… Indeed, when suspicion of left isomerism is raised then our anatomic observations suggest that the features of the atria1 appendages themselves should be recognized by cross-…

… Left atrial isomerism includes a complex spectrum of cardiac and extracardiac anomalies. The records of all patients with left isomerism … The overall survival with left atrial isomerism was …

… of left isomerism with atrioventricular block has been well documented.‘O However, the complex nature of atria1 rhythms in left isomerism … of patients with left isomerism, and clarifies the …

… , we found left isomerism much … left isomerism. The combinations proved to be ameliorative in terms of complexity for right isomerism, but exerted detrimental effects in the setting of left …

… and left isomerism are at risk for different arrhythmias but are likely to develop arrhythmias at the same age. Those with left isomerism … of findings to assign either right or left isomerism. …

… frequent in the setting of right isomerism, absence of the coronary sinus being a uniform finding. In contrast, when there are bilateral caval veins in left isomerism, one of them usually …

… AV block and left isomerism and reviews the literature. … ciation with left isomerism (polysplenia syndrome or double left-… occurring in association with left isomerism. The clinical features…

The most complex combinations of congenital cardiac malformations are found in the setting of bodily isomerism. The question remains, however, as to whether evidence of cardiac isomerism is always to be found in the setting of bodily isomerism, also known as “heterotaxy.” We have previously shown that, when assessed on the basis of the extent of the pectinate muscles relative to the atrioventricular junctions, there is always isomerism of the atrial appendages in this setting. Doubt has been remained, however, as to whether these cardiac features can accurately be recognized during life. We have now encountered two patients showing features of the left and right bodily isomerism. Examinations of these patients made using computed tomography show that all features of isomerism, no matter how complex, can now be visualized during life. The images currently presented show, furthermore, that the features of the so-called “heterotaxy” can be seen during life, not only within the heart but also in all the thoracic and abdominal organs, albeit that the isomeric features are confined to the thoracic organs. Based on the images presented, we argue that if each system of organs is analyzed and described in independent fashion; then it is possible for clinicians to exclude any suggestion of ambiguity and to provide accurate descriptions of the overall arrangement. We further discuss the appropriate terminology to describe the entity we prefer to call isomerism, along with the indications and usefulness of computed tomography in revealing the anatomic features of the congenitally malformed heart.

… right isomerism and 5 with left isomerism underwent surgical treatment at our institution (Table 1). Diagnosis of isomerism … Among the 7 patients with right isomerism, 4 had a complete …

OBJECTIVES We determined long-term outcomes in a large cohort with left atrial isomerism (LAI). BACKGROUND Left atrial isomerism is associated with a complex spectrum of cardiac and noncardiac anomalies that may impact on outcomes. METHODS The records of all patients with LAI, born between 1970 and 1998, and treated at one center were reviewed. Kaplan-Meier survival was estimated, and independent factors associated with time-related death were identified. RESULTS There were 163 patients (63% women), and extracardiac anomalies were noted in 36%, including biliary atresia in 10%. Cardiac defects included interrupted inferior caval vein in 92%, anomalous pulmonary veins in 56%, atrioventricular septal defect in 49%, pulmonary atresia or stenosis in 28% and aortic coarctation in 16%, with congenital atrioventricular block in 7%. Of 22 patients with a normal heart, 18% died of extracardiac anomalies. Of 71 patients with hearts suitable for biventricular repair, 62 (87%) had surgery, with survival of 80% at one year, 71% at five years, 66% at 10 years and 63% after 15 years. Of 70 patients with unbalanced cardiac defects suitable for single-ventricle palliation, 47 (67%) had surgery, with survival of 73% at one year, 61% at five years, 53% at 10 years and 48% at 15 years (p < 0.001). Independent factors associated with time-related death included congenital atrioventricular block, aortic coarctation, single ventricle, biliary atresia and other gastrointestinal malformations. CONCLUSIONS Both cardiac and noncardiac anomalies contribute to a high mortality with LAI. Cardiac transplantation may need to be a considered a primary option for selected high-risk patients.

… (right isomerism) or bilateral left-sidedness (left isomerism). … the spleen develops as a left-sided organ, it was in the past a … of right isomerism and polysplenia of left isomerism. This …

… Also known as bodily isomerism, we suggest that it is important to segregate the syndromes into … The abdominal organs do not demonstrate isomerism, and they show variable features …

… and spectrum of abnormalities seen in patients with the heterotaxic syndromes. We propose that the term heterotaxy syndrome be used to described these patients and that the patient's …

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.

How best to analyse and describe the features of the situation commonly known as “visceral heterotaxy” remains controversial. Much of the disagreement devolves on how to deal with the concept of isomerism. In the opinion of some, the concept of bilateral right-sidedness and bilateral left-sidedness, while useful in helping to remember which abnormalities are likely to occur in asplenia or polysplenia, should not be granted the status of a specific “situs”, since there are numerous examples of exceptions to these patterns. On the other hand, those who favour the concept of isomerism point out that, when describing only the heart, and taking the structure of the atrial appendages as the starting point for analysis, basing this on the extent of the pectinate muscles relative to the atrioventricular junctions, then the only possible arrangements for the appendages are the usual one, its mirror-image, and the two situations in which appendages of comparable morphology are found on both sides of the heart, these being the arrangements of right or left isomerism. It is certainly the case that the arrangement of the organs is not always in harmony with the arrangement of the atrial appendages, but those circumstances, in which there is disharmony, can readily be described by paying specific attention to each series of organs. On this basis, in this review, we describe the approach to heterotaxy, and isomerism of the atrial appendages, in terms of the genetic background, the diagnosis, and outcomes after cardiac surgery. Attention is given to the various diagnostic modalities, including fetal and postnatal echocardiography, recent tomographic and magnetic resonance imaging techniques, and the time-honoured approach using angiography.

… Causes of heterotaxy syndrome Heterotaxy syndrome can occur in isolation or could be a feature of other genetic syndromes like primary ciliary dyskinesia (Kartagener …

… Patients with heterotaxy, especially asplenia, continue to … Previous reviews of postmortem cases of heterotaxy included … description of human heterotaxy syndromes based on 160 …

… In this review the authors summarize recent research on the etiology of heterotaxy syndromes. Improved understanding of the genetic control of left–right patterning in the …

… This study showed a predominance of right isomerism in fetuses with heterotaxy syndrome (… shown in our previous postnatal study of heterotaxy syndrome. As compared with the other …

… heterotaxy syndromes are characterized by abnormal development of left or right sided structures. Although in heterotaxy there … The hallmark lesion of cardiac heterotaxy is the similarity …

… Heterotaxy syndrome is a complex set of abnormalities … heart defects associated with heterotaxy syndrome carry a … method to classify patients with heterotaxy continues to elude our field…

In this large, single tertiary center, retrospective study, we found persistently high mortality in patients with HS with no improvement in the most contemporary birth era. 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. In patients who underwent surgery, association between surgical pathway (univentricular versus biventricular repair) and mortality after adjusting for baseline confounders was evaluated. A risk stratification model was created by using classification and regression analysis. RESULTS: Among 264 patients, 118 (44.7%) had asplenia and 146 (55.3%) had polysplenia syndrome. Overall mortality was 40.2% (n = 106), with median follow-up of 10.2 years (longest 31.5 years). In multivariable analysis, pulmonary vein stenosis, coarctation, univentricular circulation, asplenia phenotype, and at least mild atrioventricular valve regurgitation at presentation were associated with mortality, whereas birth era was not. Among patients who underwent surgery, univentricular repair remained associated with mortality after adjustment. In classification and regression analysis, patients with biventricular circulation (especially those with polysplenia) had lower mortality than those with univentricular circulation. CONCLUSIONS: In this large retrospective study of HS, outcomes remain poor and have not improved since the early 1990s. We identified risks factors associated with earlier mortality and found that those with univentricular circulation and totally anomalous pulmonary venous connection had the worst prognosis. Survival was higher in those with biventricular circulation.

… regarding the diagnosis and outcomes of fetal heterotaxy syndrome (HS), this study sought to … Heterotaxy syndrome (HS) is a complex condition usually associated with significant …

… A retrospective single-center review of all heterotaxy syndrome patients born and/or treated at our institution from January 2000 to December 2014 was performed. Patients were …

Introduction: Heterotaxy syndrome presents a unique challenge in surgical management, even in the current era. We hypothesized that certain anatomic subsets merit novel strategies. Methods: We analyzed morphologic details, surgeries, comorbidities, subsequent admissions, and survival using Kaplan-Meier methods and multivariable risk models from a single-institution experience of 103 consecutive patients with heterotaxy who underwent cardiac surgery between January 1, 1990, and May 31, 2016. Results: Of the 103 patients (50 males and 53 females), 31 had left atrial isomerism, 64 had right atrial isomerism (RAI), and 8 patients’ isomerism was indeterminate (IND), with first cardiac operation at a mean 1.0 year (standard deviation ±3.0 years) of age. Kaplan-Meier overall survival estimate was 83.1% at six months, 77.8% at one year, 65.9% at five years, and 52.1% at ten years. Survival was particularly low among RAI following repair of total anomalous pulmonary venous connection (TAPVC) at first operation, with one- and five-year survival of 57% and 46%, respectively. By multivariable analysis, the only risk factor for death during the early phase (hazard model) was repair of TAPVC at the first cardiac operation (hazard ratio [HR]: 4.4, P = .01), and risk factors during the longer term constant phase were atrioventricular valve (AVV) regurgitation (HR: 4.2, P < .01), male gender (HR: 3.7, P < .01), and two-ventricle repair (HR: 3.0, P = .02). Patients with heterotaxy undergoing the Fontan procedure had excellent subsequent survival (85% at ten years). Conclusions: This analysis of over 100 patients with heterotaxy identified TAPVC requiring initial repair as the major risk factor for early death and important AVV regurgitation as the major risk factor in the longer term. Survival with RAI and early repair of TAPVC were poor, with one-year mortality exceeding 40%. Patients with single ventricle completing the Fontan operation enjoyed outstanding ten-year survival (85%). Initial management of RAI requiring early repair of TAPVC remains challenging. For this high-risk subset, alternative strategies such as early referral for cardiac transplantation evaluation warrant consideration.

… a population of visceral heterotaxy and to investigate the … cardiac anatomy consistent with heterotaxy syndrome. A total of 29 … An unexpected finding in 3 patients with visceral heterotaxy, …

… atrial appendages in heterotaxy syndromes, making fetal … syndromes in fetuses undergoing fetal echocardiographic examinations to determine the incidence of the heterotaxy syndrome …

… HETEROTAXY SYNDROME (HS) results from failure of the … If abortions and stillbirths are included, heterotaxy is found … and embryologic aspects of heterotaxy and advances in patient …

BACKGROUND: Historically the Fontan operation in patients with single ventricle heterotaxy syndrome and atrial isomerism has been associated with high mortality. We studied …

… with heterotaxy syndrome … with heterotaxy syndrome who have a Fontan operation should also have a fenestration performed. Currently, at our center, patients with heterotaxy syndrome …

… The third feature favoring a concept of bilateral "left-sidedness" is absence of the gallbladder… consider that the polysplenic syndrome represents bilateral left-sidedness or levo-isomerism…

… The Nodal-signaling pathway specifies left-sidedness and reversal of this pathway causes situs … Bilateral Nodal signaling causes left isomerism (bilateral left-sidedness), and bilateral …

… Cardiac magnetic resonance imaging confirmed the diagnosis of bilateral left-sidedness syndrome… Cardiovascular findings of bilateral left-sidedness syndrome include bilateral left atrial …

… : situs inversus, bilateral left-sidedness, and bilateral right-sidedness. We consider polysplenia syndrome and left-atrial isomerism as synonyms for bilateral left-sidedness and asplenia …

Heterotaxia is a group of congenital disorders characterized by a misplacement of one or more organs according to the left–right axis. Bilateral asymmetry of internal organs is …

… This finding suggests a specific association between bilateral left-sidedness and maternal … Isomerism sequence, bilateral right-sidedness or left-sidedness, is a rare defect with an …

The systematically ‘handed’, or directionally asymmetrical way in which the major viscera are packed within the vertebrate body is known as situs. Other less obvious vertebrate lateralisations concern cognitive neural function, and include the human phenomena of hand‐use preference and language‐associated cognitive partitioning. An overview, rather than an exhaustive scholarly review, is given of recent advances in molecular understanding of the mechanism that ensures normal development of‘correct’situs. While the asymmetry itself and its left/right direction are clearly vertebrate‐conserved characters, data available from various embryo types are compared in order to assess the likelihood that the developmental mechanism is evolutionarily conserved in its entirety. A conserved post‐gastrular‘phylotypic’ stage, with left‐ and right‐specific cascades of key, orthologous gene expressions, clearly exists. It now seems probable that earlier steps, in which symmetry‐breaking information is reliably transduced to trigger these cascades on the correct sides, are also conserved at depth although it remains unclear exactly how these steps operate. Earlier data indicated that the initiation of symmetry‐breaking had been transformed, among the different vertebrate classes, as drastically as has the anatomy of pre‐gastrular development itself, but it now seems more likely that this apparent diversity is deceptive.Ideas concerning the functional advantages to the vertebrate lifestyle of a systematically asymmetrical visceral packing arrangement, while untestable, are accepted because they form a plausible adaptationist‘just‐so’ story. Nevertheless, two contrasting beliefs are possible about the evolutionary origins of situs. Major recent advances in analysis of its developmental mechanism are largely due not to zoologists, comparative anatomists or evolutionary systematists, but to molecular geneticists, and these workers have generally assumed that the asymmetry is an evolutionary novelty imposed on a true bilateral symmetry, at or close to the origin of the vertebrate clade. A major purpose of this review is to advocate an alternative view, on the grounds of comparative anatomy and molecular systematics together with the comparative study of expressions of orthologous genes in different forms. This view is that situs represents a co‐optation of a pre‐existing, evolutionarily ancient non‐bilaterality of the adult form in a vertebrate ancestor. Viewed this way, vertebrate or chordate origins are best understood as the novel imposition of an adaptively bilateral locomotory‐skeletal‐neural system, around a retained non‐symmetrical‘visceral’ animal.One component of neuro‐anatomical asymmetry, the habenular/parapineal one that originates in the diencephalon, has recently been found (in teleosts) to be initiated from the same‘phylotypic’ gene cascade that controls situs development. But the function of this particular diencephalic asymmetry is currently unclear. Other left‐right partitionings of brain function, including the much more recently evolved, cerebral cortically located one associated with human language and hand‐use, may be controlled entirely separately from situs even though their directionality has a particular relation to it in a majority of individuals.Finally, possible relationships are discussed between the vertebrate directional asymmetries and those that occur sporadically among protostome bilaterian forms. These may have very different evolutionary and molecular bases, such that there may have been constraints, in protostome evolution, upon any exploitation of left and right for complex organismic, and particularly cognitive neural function.

Human laterality disorders comprise a group of diseases characterized by abnormal location (situs) and orientation of thoraco-abdominal organs and vessels across the left-right axis. Situs inversus totalis is mirror image reversal of thoraco-abdominal organs/great vessels. Situs ambiguus, better known as heterotaxy, is abnormal arrangement of thoraco-abdominal organs across the left-right axis excluding situs inversus totalis. Heterotaxy, also referred to as atrial or atrial appendage isomerism, is characterized by abnormal location of left-sided or right-sided organs with loss of asymmetry of normally paired asymmetric organs. It is associated with a variety of anomalies involving the heart, great vessels, lungs and intra-abdominal organs. Right and left atrial isomerism are associated with multiple complex congenital cardiac and vascular anomalies, many of which are lethal when untreated. Isomerism may also affect the lungs, spleen, liver, gall bladder, and intestines. Innovative surgical therapy of heterotaxy/isomerism has reduced early mortality and markedly improved long-term prognosis.

… two generations with complex congenital heart disease. Autopsy findings in … polysplenia “syndrome.” In a mouse model, this spectrum of situs abnormalities and cardiovascular defects …

… with a diagnosis of a complex congenital heart disease (CHD) and situs inversus totalis during childhood. At the age of 6-8, he was offered cardiac surgery, but his father declined the …

… to the SVC, congenital heart defects, intestinal malrotation, … , the terms “polysplenia” and “polysplenia syndrome” denote … patients described as having polysplenia in other publications…

… cardiac … polysplenia. In the past two years we have had the opportunity to study the clinical and autopsy findings in three cases of polysplenia syndrome with severe congenital heart dis…

Congenital heart diseases (CHD) result from abnormal development of the cardiovascular system and usually involve defects in specific steps or structural components of the developing heart and vessels. The determination of left–right patterning of our body proceeds by the steps involving the leftward “nodal flow” by motile cilia in the node and molecules that are expressed only on the left side of the embryo, eventually activating the molecular pathway for the left-side specific morphogenesis. Disruption of any of these steps may result in left–right patterning defects or heterotaxy syndrome. As for the outflow tract development, neural crest cells migrate into the cardiac outflow tract and contribute to form the septum of the outflow tract that divides the embryonic single truncus arteriosus into the aortic and the pulmonary trunk. Reciprocal signaling between neural crest cells and another population of myocardial precursor cells originated from the second heart field are essential for the steps of outflow tract development. To better understand the etiology of CHD, it is important to consider what kind of CHD is caused by abnormalities in each step during the complex development of the cardiovascular system.

… atresia and congenital cardiac malformations in association with polysplenia is unlikely to … biliary atresia is associated with polysplenia, congenital heart disease is almost always absent…

… Forty-one patients with proven asplenia or polysplenia coexisting with congenital heart disease were analyzed in detail. In these cases the abdominal or thoracic roentgenograms as …

BACKGROUND Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients. Methods and Results: We reviewed medical records of 236 patients who were diagnosed with polysplenia syndrome at 2 institutions for pediatric cardiology in Japan from 1978 to 2015. We selected and compared the clinical records of 16 patients with polysplenia who had incomplete atrioventricular septal defect (AVSD) as the polysplenia group, and 22 age-matched patients with incomplete AVSD without any syndromes including polysplenia as the control group. Although the severity of systemic to pulmonary shunt was not significantly different between the groups, mean pulmonary artery pressure (mPAP) and pulmonary vascular resistance index (PVRI) were significantly higher in the polysplenia group than the control (mPAP, 37.3 vs. 19.1 mmHg, P=0.001; PVRI, 5.7 vs. 1.4 WU∙m2, P=0.014) before surgical intervention. On regression analysis, polysplenia influenced the development of pulmonary hypertension (PH) regardless of age at evaluation or degree of systemic to pulmonary shunt in the patients with incomplete AVSD. CONCLUSIONS Polysplenia syndrome is an independent risk factor for CHD-associated PH. Earlier intervention may be required to adjust the pulmonary blood flow in polysplenia syndrome with CHD to avoid the progression of PH.

Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with situs ambiguus of the abdominal organs. The case presented is of a one-month-old male infant, weighing approximately 3000 g, born at the County Clinical Emergency Hospital of Sibiu, who was hospitalized from birth until death. The patient suffered cardio-respiratory arrest due to severe hypoxia and septicemia on the background of a series of complex cardiac malformations associated with congenital abdominal organ anomalies. Examination of the body revealed a common atrium with complete atrioventricular canal defect, left ventricular hypertrophy, right ventricle hypoplasia, truncus arteriosus, superior vena cava duplication, bilobation of the lungs, situs ambiguous of the abdominal organs with right-sided stomach, a midline liver, gall bladder agenesis, multiple right-sided spleens and complete inversion of the intestines and pancreas. Histopathology concluded that the patient suffered cardiac lesions consistent with infantile lactic acidosis, as well as pulmonary modifications suggesting congenital alveolar dysplasia and altered hepatic architecture compatible with fibrosis.

… alternate rhythms in the polysplenia syndrome group. Vertically … with cyanotic congenital heart disease and left-sided heart, … congenital heart disease is often seen with the polysplenia …

… conditions are presently defined as including pulmonary isomerism of left lung type (bilateral dibronchial lungs). It differs from asplenia, m-anisosplenia and polysplenia in … polysplenia in …

… infants, liveborn and free of congenital heart disease. CCVM were coded according to the … cava, hypoplastic left heart syndrome are more common in polysplenia. Azygous continuation …

… heart with polysplenia syndrome. Two of 7 siblings of the 4 patients in this group had a congenital heart defect. We may have underestimated the number of patients in the polysplenia …

… In our study, polysplenia with residual atrioventricular regurgitation increased the incidence of arrhythmias during pregnancy, and a low NYHA functional class and prior cardiac failure …

… Polysplenia is defined as multiple splenic nodules in the absence of a history of splen… due to severe congenital heart disease and immunodeficiency, heterotaxia with polysplenia (left-…

… Historically, outcomes of patients with heterotaxy syndrome and congenital heart disease … types of heterotaxy syndrome treated after 1985. We reviewed all infants with heterotaxy born …

… resonance imaging confirmed the extracardiac venous anomalies diagnosed by detailed 2-… fulfilling the diagnostic criteria for heterotaxy with abdominal viscera situs ambiguus (Figure …

Heterotaxy and situs abnormalities describe an abnormal arrangement of visceral organs in the thoracoabdominal cavity across the normal left–right axis of the body. It is associated with a high occurrence of congenital heart and abdominal defects, including anomalous pulmonary venous connections, systemic venous abnormalities, asplenia, and intestinal malrotation. Without proper diagnosis and surgical intervention, the prognosis of patients with heterotaxy syndrome and associated congenital defects is extremely poor. Complex intracardiac and extracardiac lesions are common in heterotaxy and can be difficult to assess by echocardiography. CT angiography (CTA) is a useful tool in this setting to accurately assess intracardiac and extracardiac abnormalities in this population for medical or surgical management. The intention of this pictorial essay is to review the most common cardiovascular defects involved with heterotaxy syndrome in addition to emphasizing the utility of CTA in the identification and classification of anomalies seen in these patients. This review briefly defines most common terminology used in situs abnormalities as well as presents CT images and 3-dimensional reconstructions of common anomalies associated with situs abnormalities. In summary, this review should prepare radiologists and pediatric cardiologists to describe heterotaxy and situs abnormalities in addition to recognizing the utility of CTA in these patients.

In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group. The Nomenclature Working Group created the International Paediatric and Congenital Cardiac Code, which is available for free download from the internet at [http://www.IPCCC.NET].In previous publications from the Nomenclature Working Group, unity has been produced by cross-mapping separate systems for coding, as for example in the treatment of the functionally univentricular heart, hypoplastic left heart syndrome, or congenitally corrected transposition. In this manuscript, we review the nomenclature, definition, and classification of heterotaxy, also known as the heterotaxy syndrome, placing special emphasis on the philosophical approach taken by both the Bostonian school of segmental notation developed from the teachings of Van Praagh, and the European school of sequential segmental analysis. The Nomenclature Working Group offers the following definition for the term “heterotaxy”: “Heterotaxy is synonymous with ‘visceral heterotaxy’ and ‘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. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as ‘situs solitus’, nor patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as ‘situs inversus’.” “Situs ambiguus is defined as an abnormality in which there are components of situs solitus and situs inversus in the same person. Situs ambiguus, therefore, can be considered to be present when the thoracic and abdominal organs are positioned in such a way with respect to each other as to be not clearly lateralised and thus have neither the usual, or normal, nor the mirror-imaged arrangements.”The heterotaxy syndrome as thus defined is typically associated with complex cardiovascular malformations. Proper description of the heart in patients with this syndrome requires complete description of both the cardiac relations and the junctional connections of the cardiac segments, with documentation of the arrangement of the atrial appendages, the ventricular topology, the nature of the unions of the segments across the atrioventricular and the ventriculoarterial junctions, the infundibular morphologies, and the relationships of the arterial trunks in space. The position of the heart in the chest, and the orientation of the cardiac apex, must also be described separately. Particular attention is required for the venoatrial connections, since these are so often abnormal. The malformations within the heart are then analysed and described separately as for any patient with suspected congenital cardiac disease. The relationship and arrangement of the remaining thoraco-abdominal organs, including the spleen, the lungs, and the intestines, also must be described separately, because, although common patterns of association have been identified, there are frequent exceptions to these common patterns. One of the clinically important implications of heterotaxy syndrome is that splenic abnormalities are common. Investigation of any patient with the cardiac findings associated with heterotaxy, therefore, should include analysis of splenic morphology. The less than perfect association between the state of the spleen and the form of heart disease implies that splenic morphology should be investigated in all forms of heterotaxy, regardless of the type of cardiac disease. The splenic morphology should not be used to stratify the form of disease within the heart, and the form of cardiac disease should not be used to stratify the state of the spleen. Intestinal malrotation is another frequently associated lesion that must be considered. Some advocate that all patients with heterotaxy, especially those with isomerism of the right atrial appendages or asplenia syndrome, should have a barium study to evaluate for intestinal malrotation, given the associated potential morbidity. The cardiac anatomy and associated cardiac malformations, as well as the relationship and arrangement of the remaining thoraco-abdominal organs, must be described separately. It is only by utilizing this stepwise and logical progression of analysis that it becomes possible to describe correctly, and to classify properly, patients with heterotaxy.

… heterotaxy has identified total anomalous pulmonary venous … vein stenosis was significantly higher for heterotaxy patients … in heterotaxy patients with total anomalous pulmonary venous …

… Anomalous pulmonary venous connection to a systemic vein was total in 42 (58%) of … anomalies were associated with a significantly higher prevalence of anomalous pulmonary venous …

… malformations including left atrial isomerism, atrial septal defect, partial anomalous pulmonary venous … syndrome, bradycardia, heterotaxy, and cardiac malformations including left atrial …

… heterotaxy and total veins in a subset that have other associated problems. And by that I mean if we have a patient with heterotaxy, total veins… Maybe a patient with heterotaxy, total veins…

… venous anomaly. Defining the pulmonary venous anatomy in the context of heterotaxy is … in right isomerism, the pulmonary venous anatomy in such cases would inevitably be “total …

… repair of total anomalous pulmonary venous return in patients with heterotaxy syndrome has … The outcomes of heterotaxy patients at Texas Children’s Hospital undergoing repair of total …

BACKGROUND Previous studies have demonstrated increased early mortality and pulmonary vein reintervention for patients with total anomalous pulmonary venous connection (TAPVC) and heterotaxy syndrome (HTX+) compared with patients with TAPVC without heterotaxy syndrome (HTX-). We aimed to evaluate the longitudinal risk of pulmonary vein reintervention and mortality in HTX + patients. METHODS A retrospective review was performed to identify longitudinal interventions in patients with TAPVC seen at a single center from 1995 to 2019. The mean cumulative interventions were described for all patients using the Nelson-Aalen estimator. Survival with TAPVC was described using Kaplan-Meier estimates. RESULTS A total of 336 patients were identified with TAPVC, of whom 118 (35%) had heterotaxy syndrome. Functional single ventricles were identified in 106 of these 118 HTX + patients (90%) and in 14 of 218 HTX- patients (6%) (P < .001). Obstructed TAPVC (OBS+) was present in 49 of 118 HTX + patients (42%) and in 87 of 218 HTX- patients (40%) (P = .89). The median duration of follow-up was 6.5 years. Five-year survival was 69% for HTX+/OBS + patients, 72% for HTX+/OBS- patients, 86% for HTX-/OBS + patients, and 95% for HTX-/OBS- patients (P < .0001, log-rank test). The mean number of pulmonary vein interventions at the median follow-up time was greater in the HTX+/OBS + patients compared with HTX+/OBS- patients (mean, 2.0 vs 1.1; P = .030), HTX-/OBS + patients (mean, 1.3; P = .033), and HTX-/OBS- patients (mean, 1.3; P = .029). CONCLUSIONS Among the 4 cohorts, HTX+ was associated with a higher rate of mortality, and HTX+/OBS+ was associated with a greater number of pulmonary vein interventions. This may be due in part to the high prevalence of single ventricle physiology in the HTX + cohort.

… of other pulmonary vascular changes that can occur in the context of a unidirectional CPA or acquired discontinuous PAs, we limited the study to patients with heterotaxy, univentricular …

… verted situs, abnormalities of the spleen and complex cardiovascular … Because heterotaxy is a spectrum with milder forms, and because certain anomalies carry greater diagnostic weight…

… Although most unfavorable prognostic markers identified in this study concerned the heart (bradyarrhythmia, anomalous pulmonary venous return, univentricular physiology and right/…

… regarding the normal development of the spleen, … polysplenia also display defects in other organs and organ systems. The 5-year survival rates for patients with asplenia or polysplenia …

… We speculate that in an embryo with delayed body curvature, … polysplenia we suggest that the basic abnormality is a premature development of body curvature relative to development …

The anatomy, physiology and embryology of the spleen are essential fields of study for the determination of congenital varieties as well as the pathological processes occurring in this organ.The aim of this study is to summarize the current knowledge on the proper development of the spleen and to present structural variants that may be of clinical significance or be important from the radiologist's point of view.Structural changes of the spleen may result in non-specific clinical symptoms, which may confuse an inexperienced physician. Inaccurate diagnosis and late diagnosis have various negative, often even fatal, consequences. In order to make an appropriate diagnosis, and thus help the patient in a timely manner, it is necessary to have extensive knowledge about the variants of the structure of the spleen. Knowledge of anatomical variations is essential for the development of a differential diagnosis, which enables the correct diagnosis to be made.

The situs ambiguous or heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism. Malformation of gastroenterologic system includes polysplenia (segmented spleen or multiple splenules), agenesis (partial or complete) of the dorsal pancreas and anomalous of the inferior vena cava implantation. Here, we describe and show the anatomy of a patient with left side inferior vena cava, situs ambiguous (complete common mesentery), polysplenia, and short pancreas. We also discuss about the embryologic process and the implications of these anomalies during gynecologic, digestive, and liver surgeries.

We report on a fetus with tetramelic campomelia, polysplenia, multicystic dysplastic kidneys, and cervical lymphocele. This condition is similar to the autosomal recessive condition described by Cumming et al. [1986: Am J Med Genet 25:783-790] and is different from campomelic syndrome. In addition, our case had anomalies not previously described in this condition, including abnormal lung lobation with bilateral left bronchial morphology, dextrocardia, total anomalous pulmonary venous return, a left superior vena cava, and a right aortic arch. The pancreas was short, with absence of the body and tail. These anomalies are similar to those found in the polyasplenia spectrum. We suggest that the syndrome reported by Cumming et al. may be expanded to include polysplenia with heterotaxia and that Cumming syndrome may be considered another autosomal recessive condition associated with a laterality defect.

Heterotaxy syndromes, otherwise laterality defects, are variations from anatomic left-right asymmetry. Situs inversus is the complete reversal of the normal situs, still situs ambiguus is the randomisation of the normal organ position. Situs ambiguus may be manifested as asplenia or polysplenia syndrome. Normal situs and both types of the heterotaxy syndromes may appear among some affected families, whereas the different situs are rarely expressed in the same family. We describe an autosomal-recessive inherited familial heterotaxy syndrome with two affected siblings – one of whom has situs inversus, and the other with polysplenia syndrome. The polysplenia syndrome was diagnosed by fetal echocardiography. Since the chromosomal or molecular diagnosis of laterality defects are accessible only in X-linked heterotaxy syndromes, the fetal echocardiography is the earliest available diagnostic method in this field. Therefore, fetal echocardiography has great importance for affected families.

… or polysplenia syndrome, because each appears distinct with respect to development, clinical … the genetic differences between asplenia and polysplenia syndromes and to advance our …

Objective To analytically depict the associated malformations of polysplenia syndrome (PS) in adults via computed tomography (CT). Materials and methods The incidence of malformations associated with PS in twelve adult patients was retrospectively analyzed via CT imaging. Results The number of splenic nodules ranged from three to twelve; the splenic nodules were located in the left upper quadrant in nine patients and in the right upper quadrant in three patients. A short pancreas was present in all twelve patients. Midgut malrotation was present in eight patients. Situs inversus totalis was present in two patients. Nine patients presented the absence of hepatic segmental inferior vena cava (IVC), with the hepatic vein directly converging into the right atrium and the continuation of the azygos vein. The preduodenal portal vein was present in six patients. Left lung heterotaxy was found in nine patients. The inferior vena cava was bilateral in one patient. Aberrant right subclavian arteries, bilateral common carotid arteries sharing trunks, abnormal renal vein branching and routing, and abdominal portal vein branching were also found in individual patients. Conclusions PS is a complex malformation syndrome involving multiple systems. The most common malformation is short pancreas, and other malformations, such as left lung heterogeneity, hepatic segmental IVC agenesis with continuation of the azygos vein, midgut malrotation, preduodenal portal vein, and left atrial heterotaxy, have relatively high prevalence rates.

… during embryonic development. … development of PDPV. b Schema illustrating Hashimoto’s theory of PDPV, which states that the difference between normal embryological development …

… and anatomical variations compatible with left isomerism with polysplenia. Although these patients are prone to develop potentially lethal complications, our patient was diagnosed with …

… The aim of this study, based on the embryology of the portal … Indeed in spite of the absence of polysplenia (intestinal … rare congenital anomaly of PV development that was first described …

… To our knowledge, this is the first report describing that polysplenia is associated with common atrioventricular canal and persistent truncus arteriosus, which was echocardiographically …

… found in atrial isomerism, suggesting a sequential approach to image evaluation, and … The broad spectrum of abnormalities can be complex and includes right and left isomerism. …

… rules of left versus right isomerism. In day-to-day practice with cross-sectional imaging, we … are consistently classifiable as right or left isomerism, therefore falling into the category of …

… As such, this does not include patients who have normal arrangement of the internal organs across the left–right axis (ie, situs solitus) or complete mirror imaging of the internal organs …

… On the other hand, left isomerism refers to bilateral morphologic left atria, polysplenia and … the roof of the left-sided atrium, and the CS is often absent [26]. In left isomerism, drainage can …

ABSTRACT Anatomical configurations where the viscero-atrial structures do not follow the usual arrangement or mirror-imaged arrangement is described conventionally as heterotaxy. Isomerism in the context of the congenitally malformed heart is a situation where some paired structures on opposite sides of the left–right axis of the body are, in morphologic terms, symmetrical mirror images of each other. It encompasses two separate entities, right and left isomerism, the former being usually associated with asplenia and the latter with polysplenia. We report herein a rare case of left isomerism that is associated with asplenia in a 4-year-old girl.

BackgroundBodily isomerism, also referred to as heterotaxy, involves predominantly the thoracic organs, although other organs are usually abnormally positioned. Previously assessed on the basis of splenic anatomy, it is now understood that isomerism is better segregated on the basis of atrial appendage morphology. This allows for anticipation of associated findings. We aimed to assess the accuracy of segregation based on the morphology of the atrial appendages and other structures more easily identified by echocardiography.MethodsWe reviewed postmortem specimens of hearts from the archives at four institutions categorised as obtained from patients with “heterotaxy”. The cardiac structures were analysed using sequential segmental analysis. Non-cardiac structures were also examined if available. Statistical analyses were performed to compare differences in the settings of right as opposed to left isomerism.ResultsSpecimens were available from 188 patients. Of these, 57 had left isomerism, and 131 had right isomerism. Atrial appendages were isomeric in all patients. A coronary sinus was found only in left isomerism, whereas a terminal crest, or a Eustachian valve, was found only in right isomerism. Interruption of the inferior caval vein was associated with left isomerism, whereas totally anomalous pulmonary venous connection was associated with right isomerism.ConclusionIsomerism is uniformly segregated on the basis of the morphology of the atrial appendages, itself defined by the extent of the pectinate muscles. Other features such as the presence of a coronary sinus and systemic venous return can further help with such segregation of isomerism.

… The combination of nuchal oedema, viscerocardiac heterotaxy and azygos continuation prompted a prenatal diagnosis of left isomerism in this case. Postnatal imaging studies, however…

Children with right isomerism usually accompany complex congenital heart disease, which is associated with pulmonary atresia, common atrioventricular valve, and total anomalous pulmonary venous connection. This study aimed to explore specific cardiovascular morphology associated with right isomerism on computed tomography angiography (CTA).