Situs Abnormalities Research Articles

Intrahepatic persistent fetal right umbilical vein: a retrospective study

Introduction To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed. The inclusion criteria were women with gestational age greater than 13 weeks of gestation. Exclusion criteria were fetuses with situs abnormalities, due to the hepatic venous ambiguity, and extrahepatic PRUV. The primary outcome was the incidence of intrahepatic PRUV in our cohort. The secondary outcomes were associated malformations. Results 219/57,079 cases (0.38%) of intrahepatic PRUV were recorded. The mean gestational age at diagnosis was 21.8 ± 2.9 weeks of gestations. PRUV was isolated in the 76.7%, while in 23.3% was associated with other major or minor abnormalities. The most common associated abnormalities were cardiovascular abnormalities (8.7%), followed by genitourinary abnormalities (6.4%), skeletal abnormalities (4.6%), and central nervous system abnormalities (4.1%). Within the cardiovascular abnormalities, the most common one was ventricular septal defect (six cases). Conclusion In most cases PRUV is an isolated finding. Associated minor or major malformations are presented in the 23.3% of the cases, so this finding should prompt detailed prenatal assessment of the fetus, with particular regard to cardiovascular system.

Isolated levocardia- a rare fetal anomaly with successful pregnancy outcome

Isolated levocardia- a rare fetal anomaly with successful pregnancy outcome - IJOGR- Print ISSN No: - 2394-2746 Online ISSN No:- 2394-2754 Article DOI No:- 10.18231/j.ijogr.2019.086, Indian Journal of Obstetrics and Gynecology Research-Indian J Obstet Gynecol Res

Deciphering normal and anomalous viscero-atrial situs on multidetector CT angiography.

Viscero-atrial situs encompasses the laterality, relative position and configuration of the abdominal viscera, the atria of the heart and the tracheobronchial tree. Determining the situs and cardiac position is the first step in the commonly used sequential, segmental approach to the imaging evaluation of congenital heart defects (CHD). Abnormalities of visceroatrial situs and cardiac position are frequently associated with the presence of complex CHDs and accurate assessment of situs abnormalities can help predict the probability and type of the defect. Multidetector CT (MDCT) angiography, with its multiplanar reformatting and volume rendering techniques, offers accurate information about the morphology and three-dimensional relationships of the various cardiac and extra cardiac structures. In this pictorial essay, we present the MDCT imaging findings of the spectrum of abnormalities of visceroatrial situs and cardiac position, using a third generation dual source CT scanner.

Characteristics and outcomes of fetuses with laterality defects are the current outcomes better? A single center study

Objective: To analyze the more recent outcomes of fetuses with different laterality defects.Material and methods: Out of 1508 fetuses with congenital heart disease (CHD) diagnosed by echocardiography between January 1995 and December 2015, 94 (6.3%) presented abnormal visceroatrial situs: 42 till December 2002 (group 1, analyzed retrospectively) and 52 since then until December 2015 (group 2, analyzed prospectively). Twenty-one had left isomerism (Lisom), 22 right isomerism (Risom), 16 situs inversus- dextrocardia (SVI-dx), 5 situs inversus- levocardia (SVI-levo), and 30 situs solitus-dextrocardia (SSol-dx).Results: Seventy-six cases (81%) had CHD, more frequently complex atrioventricular defect. Eighteen cases showed normal heart: half of subgroups SVI-dx and SVI-levo, a third of SSol-dx. Postoperative mortality in continuing pregnancy in group 2 was 43.7 versus 40% in group 1, lower in SVs-dx (0 versus 50%) and Lisom (33.3 versus 66.7%), worse in Risom (71.4 versus 25%). Total mortality in group 2 was 48.3 versus 55% in group 1, better in Ssol-dx (37.5 versus 50%) and in Lisom (27.4 versus 71.4%). In isolated forms all but one case are alive.Conclusions: Our fetal cases presented a relevant mortality in both periods. The outcomes were slightly better in a more recent era in SSol and Lisom.What is known about this topic?Out of laterality defects, the heterotaxies (i.e. left and right isomerism) are known to be associated to a relevant mortality in fetal and neonatal cases.Heterotaxies have a variable position of the heart, but some authors evaluated only those with dextrocardia in their studies on different laterality defects.Controversial data are presented in the literature for the outcomes of fetuses with laterality defects. Many large studies analyzed the data of a very long time period in which it is opinable to compare the results of the treatment, because of a recent improved management and surgical techniques.What does this study add?Our study presents an experience of a single center with cases of different types of laterality defects observed during a routine fetal echocardiography, not only heterotaxies.The knowledge of different laterality defects and of their characteristics (association with cardiac and extracardiac anomalies or with normal heart) is useful for the prenatal counseling.We compare the postoperative and total mortality in more recent period (since 2003) with respect to the previous era (1995–2002).

Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy.

Heterotaxy syndrome/ isomerism is characterized by an abnormal symmetry of the viscera that are normally dissimilar due to abnormal lateralization of thoracic and abdominal viscera and is frequently associated with complex cardiac anomalies. Isomerism may be of right or left. This article describes the morphological characteristics of heterotaxy and suggests an approach in evaluating the spectrum of abnormalities associated with this syndrome. This study is based on 12 cases diagnosed on antenatal ultrasound as heterotaxy syndrome. Results of the examinations were re-evaluated and compared by fetal autopsy. Based on the following echocardiographic criteria, a diagnosis of left isomerism was made if there was viscerocardiac heterotaxy associated with an interruption of inferior vena cava or with bilateral finger-like atrial appendages or if it was associated with heart block. If there was evidence of viscerocardiac heterotaxy with complex cardiac anomalies then it was diagnosed as right atrial isomerism or visceral heterotaxy syndrome. We diagnosed 6/12 as left isomerism and rest of the cases as right isomerism/visceral heterotaxy syndrome. In Autopsy we evaluated visceral situs and morphology of the lungs and the main bronchi, the state of the liver, spleen, bowel, and the precise anatomy of the heart and confirmed 4/12 as left isomerism 4/12 as right isomerism and two cases as visceral heterotaxy syndrome (VHS). Rest of the two cases were included in the study despite missing autopsy data, as the combination of abnormal situs with interrupted inferior vena cava, and cardiac malformation allowed a diagnosis of left isomerism with high probability. In this study, we aimed to find common features of heterotaxy syndrome on prenatal ultrasound as well as on fetal autopsy. This syndrome should be accurately diagnosed in the prenatal period in order to allow appropriate counseling of parents.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple motile cilia of the airway and are responsible for destructive airway disease. Outer dynein arms (ODAs) are essential for ciliary beat generation, and human respiratory cilia contain different ODA heavy chains (HCs): the panaxonemally distributed γ-HC DNAH5, proximally located β-HC DNAH11 (defining ODA type 1), and the distally localized β-HC DNAH9 (defining ODA type 2). Here we report loss-of-function mutations in DNAH9 in five independent families causing situs abnormalities associated with subtle respiratory ciliary dysfunction. Consistent with the observed subtle respiratory phenotype, high-speed video microscopy demonstrates distally impaired ciliary bending in DNAH9 mutant respiratory cilia. DNAH9-deficient cilia also lack other ODA components such as DNAH5, DNAI1, and DNAI2 from the distal axonemal compartment, demonstrating an essential role of DNAH9 for distal axonemal assembly of ODAs type 2. Yeast two-hybrid and co-immunoprecipitation analyses indicate interaction of DNAH9 with the ODA components DNAH5 and DNAI2 as well as the ODA-docking complex component CCDC114. We further show that during ciliogenesis of respiratory cilia, first proximally located DNAH11 and then distally located DNAH9 is assembled in the axoneme. We propose that the β-HC paralogs DNAH9 and DNAH11 achieved specific functional roles for the distinct axonemal compartments during evolution with human DNAH9 function matching that of ancient β-HCs such as that of the unicellular Chlamydomonas reinhardtii.

The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6

Connections between cilia and renal cystic diseases are well known, yet molecular mechanisms remain undefined. Cysto-proteins localized in the Inv compartment of cilia (INV, NPHP3, NEK8, and ANKS6) constitute a distinct group. Here we created and analyzed mutant mice (G2A mice) with a defective cilia localization signal in the Nphp3 gene. Mutant NPHP3 was absent the binding capacity of UNC119, a carrier protein responsible for the delivery of myristoylated cargo to the cilium, so ciliary localization was reduced or lost in the kidney but not in the embryonic node. Mutant mice developed renal cysts but not situs abnormalities. Although ciliary localization of INV, NEK8, and ANKS6 did not change in the kidneys of Nphp3 mutant mice, ANKS6 phosphorylation was impaired. In general, ANKS6 levels decrease with age in the kidneys of wild-type mice. However, cystic kidneys in G2A and Inv mice maintained high levels of a non-phosphorylated form of ANKS6. We found INV and NPHP3 cooperate and promote ANKS6 phosphorylation by NEK8 in renal cilia. Thus, there is a novel signaling path from cilia in which ANKS6 functions as a signal mediator and link between cilia and the cytoplasm to regulate kidney morphogenesis.

Colorectal Carcinoma in a Patient with Situs Inversus Totalis

AbstractIntroduction: Colorectal cancer is one of the most common types of malignant tumors worldwide. In patients with situs abnormalities such as situs inversus totalis or situs ambiguus, the presence of this tumor could be a challenge for the surgeon, especially in cases in which the laparoscopic approach is considered.Case presentation: We report the case of a 69-year-old male patient with situs inversus totalis. This particular case of situs inversus totalis was not a classical type because the patient had bilateral bilobed lungs, polysplenia, preduodenal portal vein in association with midgut malrotation. The pathology report after surgery revealed moderately differentiated adenocarcinoma of the sigmoid colon, stage pT3 N1c M1a, liver metastases but without metastases in the eight resected lymph nodes. We compared this rare association of diseases of particular anatomic aspects with other reports in the specialty literature.Conclusion:The identification of situs abnormalities or other malformations in patients with resectable colorectal cancer is essential, thus preoperative imaging studies are imperative for a proper surgical management. Colorectal cancer metastasizing patterns in patients with intestinal malrotation need to be further investigated.

20 Multimodality 4D imaging and modelling for complex double outlet right ventricles

Double outlet right ventricle can have multilevel complexity some with normal situs, levocardia and non-committed ventricular septal defect (DORV-NCVSD), and some with Dextrocardia, or abnormal situs, borderline right or left ventricles and juxtaposed atrial appendages. Decision-making can be extremely difficult due to the complex 3-dimensional spatial relationships of the atrial communication, the ventricular septal defect (VSD), the semilunar valves and the atrioventricular valves; along with the size of the ventricular cavities. Understanding of these relationships can determine whether the patient is suitable for a biventricular repair or not. Recently, advances in 3D printing have been made allowing models to be made from cross-sectional imaging (usually CT or MRI images). These can be very useful; however, they are still subject to the limitations of the chosen imaging modality. We present a case series of 4 cases of complex DORVs; 2 with NCVSD, and 2 with Dextrocardia borderline ventricles and Juxtaposed atrial appendages where we used a combination of 4D echocardiographic, CT and angiographic information fed into the materialise software to create as detailed as possible picture of all the anatomic features. This enabled detailed surgical plans to be made. Anatomical details at the time of surgery were entirely consistent with the information given by all of the various imaging modalities, allowing confidence in the planning process. Conclusion These cases demonstrate the value of using a variety of imaging modalities for complex DORV cases, ensuring that important details are not missed.

Congenital Asplenia Revealed by Streptococcus oralis septicemia: Case Report

Congenital asplenia is a rare life-threatening condition, often presenting with sepsis caused by encapsulated pathogens. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. Isolated congenital asplenia is a very rare condition. We report a case of asplenia revealed by severe sepsis and multi-organ failure in a previously healthy 25-year-old male how had never undergone any surgical procedures. Blood cultures grew Streptococcus oralis four days after admission. Computed tomography revealed pneumonia and asplenia. The patient was finally diagnosed as Streptococcal sepsis revealing isolated congenital asplenia. Cephalosporin and levofloxacin were administered and the patient died following cardiopulmonary arrests. No family history for this condition was reported. Clinicians should pay attention to the congenital asplenia in Streptococcal disease, particularly in the event of overwhelming sepsis. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives.

Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives.

Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU Framework Programme Horizon 2020 funded COST Action (BM1407). The Inaugural Conference of BEAT-PCD was held in December 2015 in Southampton, UK. The conference attracted ninety-six scientists, clinicians, allied health professionals, industrial partners and patient representatives from twenty countries. We aimed to identify the needs for PCD research and clinical care, particularly focussing on basic science, epidemiology, diagnostic testing, clinical management and clinical trials. The multidisciplinary conference provided an interactive platform for exchanging ideas through a program of lectures, poster presentations, breakout sessions and workshops. This allowed us to develop plans for collaborative studies. In this report, we summarize the meeting, highlight developments, and discuss open questions thereby documenting ongoing developments in the field of PCD research.

Presentation of primary ciliary dyskinesia in children: 30 years' experience.

Primary ciliary dyskinesia (PCD) is a rare (1:15,000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and hearing impairment. As the diagnosis is often delayed for years, the purpose of this study was to review the presenting features of children with PCD attending Australia's initial diagnostic PCD service over a 30-year period. A retrospective review of the symptoms of children diagnosed with PCD at Concord Hospital between 1982 and 2012 was undertaken. One thousand thirty-seven paediatric patients were referred for assessment and underwent nasal ciliary brushing. Eighty-four (8.1%) had PCD based on microscopic analysis of nasal cilia. This included 81 with ciliary ultrastructural abnormalities demonstrated on electron microscopy and 3 with a suggestive phenotype, reduced ciliary beat frequency and a family history of PCD. The median age at diagnosis was 6.4 years (range 0.1 to 18.2 years). Forty-six per cent had situs abnormalities and 31% had a family member with PCD. Recurrent cough (81%), rhinosinusitis (71%), recurrent otitis media (49%) and neonatal respiratory distress (57%) were reported. Bronchiectasis at presentation was documented in 32%. Situs abnormalities and neonatal respiratory distress were present together in 26%. PCD remains under-recognised by health-care workers. The combination of neonatal respiratory distress, chronic suppurative cough and rhinosinusitis was the most common documented symptom cluster at presentation in cases of PCD. A heightened awareness of the clinical features of the disease may help to lower the age at diagnosis, facilitate appropriate treatment and improve long-term outcomes.

Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature

ObjectivesCongenital heart disease is reported in 15–45% of omphalocele cases. Associated abnormalities of systemic veins have occasionally been reported in children and rarely documented in the fetus. We report a case series of interrupted inferior vena cava (Int-IVC) in association with omphalocele and review the literature. MethodsFrom our fetal database we identified all cases of omphalocele referred for fetal echocardiography (FE) between 1997 and 2012. We reviewed pre and postnatal medical records and performed a literature search from 1975 to present to identify previous relevant publications. ResultsOf 9627 fetuses referred for FE, 34 had an omphalocele. Gestational age at FE was 17+6 to 26+4weeks. Seven of the 34 fetuses were shown to have an Int-IVC with azygos continuation to a right-sided superior vena cava (SVC). The heart was structurally normal in all but one case. The abdominal wall defect was large and contained liver in all. There were three fetal demises and one neonatal death. Three cases were operated successfully. Since 1975, we identified 12 publications reporting omphalocele with systemic venous abnormalities. Abnormal IVC angulation may lead to surgical complications. Failure of IVC formation is likely to be a developmental rather than a situs abnormality. Int-IVC with a dilated azygos influences venous access and may predispose to venous thrombosis. ConclusionWe have documented an association between large omphalocele and Int-IVC with azygos continuation to the SVC. In this small series, this did not have surgical implications. It will however, influence route of any future cardiac catheterisation and may have long-term implications.

Multiple Renal Cyst Development but Not Situs Abnormalities in Transgenic RNAi Mice against Inv::GFP Rescue Gene

In this study we generated RNA interference (RNAi)-mediated gene knockdown transgenic mice (transgenic RNAi mice) against the functional Inv gene. Inv mutant mice show consistently reversed internal organs (situs inversus), multiple renal cysts and neonatal lethality. The Inv::GFP-rescue mice, which introduced the Inv::GFP fusion gene, can rescue inv mutant mice phenotypes. This indicates that the Inv::GFP gene is functional in vivo. To analyze the physiological functions of the Inv gene, and to demonstrate the availability of transgenic RNAi mice, we introduced a short hairpin RNA expression vector against GFP mRNA into Inv::GFP-rescue mice and analyzed the gene silencing effects and Inv functions by examining phenotypes. Transgenic RNAi mice with the Inv::GFP-rescue gene (Inv-KD mice) down-regulated Inv::GFP fusion protein and showed hypomorphic phenotypes of inv mutant mice, such as renal cyst development, but not situs abnormalities or postnatal lethality. This indicates that shRNAi-mediated gene silencing systems that target the tag sequence of the fusion gene work properly in vivo, and suggests that a relatively high level of Inv protein is required for kidney development in contrast to left/right axis determination. Inv::GFP protein was significantly down-regulated in the germ cells of Inv-KD mice testis compared with somatic cells, suggesting the existence of a testicular germ cell-specific enhanced RNAi system that regulates germ cell development. The Inv-KD mouse is useful for studying Inv gene functions in adult tissue that are unable to be analyzed in inv mutant mice showing postnatal lethality. In addition, the shRNA-based gene silencing system against the tag sequence of the fusion gene can be utilized as a new technique to regulate gene expression in either in vitro or in vivo experiments.

Permanent pacemaker implantation in a patient with situs solitus, dextrocardia, and corrected transposition of the great arteries using a novel angiographic technique

Complex congenital heart diseases involving abnormalities of the atrial situs and cardiac malpositions like dextrocardia can pose a considerable challenge to transvenous permanent pacemaker implantation (PPI). Literature describing transvenous PPI techniques in patients with complex cardiac anomalies is scarce. In this report, we describe a novel angiography-guided technique for the implantation of a dual chamber transvenous pacemaker in a patient with complete heart block with situs solitus, dextrocardia, and congenitally corrected transposition of the great arteries.

Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography

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.

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 20 genes, but collectively they account for only ∼65% of all PCDs. To identify mutations in additional genes that cause PCD, we performed exome sequencing on three unrelated probands with ciliary outer and inner dynein arm (ODA+IDA) defects. Mutations in SPAG1 were identified in one family with three affected siblings. Further screening of SPAG1 in 98 unrelated affected individuals (62 with ODA+IDA defects, 35 with ODA defects, 1 without available ciliary ultrastructure) revealed biallelic loss-of-function mutations in 11 additional individuals (including one sib-pair). All 14 affected individuals with SPAG1 mutations had a characteristic PCD phenotype, including 8 with situs abnormalities. Additionally, all individuals with mutations who had defined ciliary ultrastructure had ODA+IDA defects. SPAG1 was present in human airway epithelial cell lysates but was not present in isolated axonemes, and immunofluorescence staining showed an absence of ODA and IDA proteins in cilia from an affected individual, thus indicating that SPAG1 probably plays a role in the cytoplasmic assembly and/or trafficking of the axonemal dynein arms. Zebrafish morpholino studies of spag1 produced cilia-related phenotypes previously reported for PCD-causing mutations in genes encoding cytoplasmic proteins. Together, these results demonstrate that mutations in SPAG1 cause PCD with ciliary ODA+IDA defects and that exome sequencing is useful to identify genetic causes of heterogeneous recessive disorders.

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction resulting in chronic oto-sino-pulmonary disease, respiratory distress in term neonates, laterality (situs) defects, and bronchiectasis. Diagnosis has traditionally relied on ciliary ultrastructural abnormalities seen by electron microscopy. Mutations in radial spoke head proteins occur in PCD patients with central apparatus defects. Advances in genetic testing have been crucial in addressing the diagnostic challenge. Here, we describe a novel splice-site mutation (c.921+3_6delAAGT) in RSPH4A, which leads to a premature translation termination signal in nine subjects with PCD (seven families). Loss-of-function was confirmed with quantitative ciliary ultrastructural analysis, measurement of ciliary beat frequency and waveform, and transcript analysis. All nine individuals carrying c.921+3_6delAAGT splice-site mutation in RSPH4A were Hispanic with ancestry tracing to Puerto Rico. This mutation is a founder mutation and a common cause of PCD without situs abnormalities in patients of Puerto Rican descent.

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 14 genes, but they collectively account for only ~60% of all PCD. To identify mutations that cause PCD, we performed exome sequencing on six unrelated probands with ciliary outer dynein arm (ODA) defects. Mutations in CCDC114, an ortholog of the Chlamydomonas reinhardtii motility gene DCC2, were identified in a family with two affected siblings. Sanger sequencing of 67 additional individuals with PCD with ODA defects from 58 families revealed CCDC114 mutations in 4 individuals in 3 families. All 6 individuals with CCDC114 mutations had characteristic oto-sino-pulmonary disease, but none had situs abnormalities. In the remaining 5 individuals with PCD who underwent exome sequencing, we identified mutations in two genes (DNAI2, DNAH5) known to cause PCD, including an Ashkenazi Jewish founder mutation in DNAI2. These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders.

Situs Ambiguous with Polysplenia

Situs ambiguous with polysplenia is a situs abnormality characterized by the duplication of left-sided organs and presence of multiple spleens. Situs anomalies are rare conditions with a developmental origin where the inner organs are located other than in their normal localizations. Although seemingly difficult to define and categorize, they can be distinguished from each other by their features. In this article, our purpose is to present radiologic findings of a 25-year-old male, who has diagnosis of situs ambiguous with polysplenia, and to discuss situs abnormalities. (Gazi Med J 2012; 23: 97-9)