Situs Abnormalities Research Articles

Laparoscopic cholecystectomy for chronic stone cholecystitis in a patient with situs inversus totalis managed at the Delfina Torres De Concha Hospital in Esmeraldas; case report

Situs Inversus Totalis (SIT) is when all the organs of the body are inverted towards the opposite side. Its incidence varies between 1 in 5.000 and 1 in 20.000 people, and it is due to an autosomal recessive gene. This disorder is characterized by the mirror arrangement of the thoracic and abdominal viscera, and can lead to cardiac, intestinal and vascular complications. Although laparoscopic cholecystectomy is the standard treatment for cholelithiasis, it can present technical challenges in cases of situs inversus, especially for right-handed surgeons, and it is preferable to be performed by a left-handed surgeon, although this is not strictly essential. Although there is no evidence of a higher incidence of cholelithiasis in patients with situs inversus totalis, more variations and abnormalities are expected in these patients. This report presents the case of a female patient with SIT who underwent laparoscopic cholecystectomy, demonstrating that the procedure can be performed safely with minimal adaptations, such as in this case the variant of using an 11 mm trocar in the third port for the handling of the clipper for skilled surgeons in any health home that has the equipment and trained personnel, given the rarity of this condition, these cases provide valuable information and challenge to the conventional understanding of organ positioning

Clinical Presentation and Therapy of Anomalies of the Situs.

Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs. "Situs" is derived from Latin and is the place where something exists or originates. In human anatomy, situs can be solitus (derived from Latin, meaning "normal"), inversus, or ambiguus. Heterotaxy syndrome represents an intermediate arrangement of internal organs between situs solitus and situs inversus, also known as "situs ambiguous." Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. The determination of situs as normal, inversus, or ambiguus is primarily based on the location of unpaired organs such as the spleen, liver, stomach, and intestines. Diagnosis is made by clinical examination, echocardiography, a chest X-ray (position of the heart, stomach, and liver), and ultrasound of the abdominal organs. Situs is considered solitus if the left atrium, spleen, stomach, and the trilobed lung are on the left side and the liver and bilobed lung are on the right side. Situs ambiguus is present if the location of unpaired structures is random or indeterminate even after detailed and appropriate imaging. Situs inversus results when the arrangement of the thoracic and abdominal organs is mirrored. Individuals with situs inversus or situs solitus do not experience fatal dysfunction of their organ systems, as general anatomy and morphology of the abdominothoracic organ-vessel systems are conserved.

CMR 3-115 - Thoracic Duct Drainage Patterns in Patients with Abnormalities of Thoraco-abdominal Situs

CMR 3-115 - Thoracic Duct Drainage Patterns in Patients with Abnormalities of Thoraco-abdominal Situs

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement [situs solitus (SS)] or mirror image inversion [situs inversus totalis (SIT)]. Research QuestionDo patients with PCD and SA have worse clinical outcomes compared to those with SS or SIT? Study Design and MethodsThis cross-sectional, multicenter study evaluated participants ≤21 years with PCD. Participants were classified as SA, including heterotaxy, or non-SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39/CCDC40 genotype, using generalized linear models, logistic and Poisson regression. ResultsIn 397 participants with PCD (mean age 8.4 years, range 0.1-21), 42 were classified as SA, including 16 (38%) with complex cardiovascular malformations (CVM) or atrial isomerism, 13 (31%) with simple CVM, and 13 (31%) without CVM. Of these, 15 (36%) underwent cardiac surgery, 24 (57%) had an anatomic spleen abnormality, and 7 (17%) had both. The remaining 355 participants were non-SA, including 152 with SIT and 203 with SS. Overall, 70 (17%) participants had the severe CCDC39/CCDC40 genotype. Compared to non-SA participants, those with SA had lower median body mass index Z-scores (p=0.03), lower forced vital capacity Z-scores (p=0.01), more hospitalizations and intravenous antibiotic courses for acute respiratory infections during the 5-years before enrollment (p<0.01). Participants with CVM requiring surgery or anatomic spleen abnormalities had lower median body mass index Z-scores and more hospitalizations and intravenous therapies for respiratory illnesses compared to non-SA participants. InterpretationChildren with PCD and SA have worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in SA participants with PCD are associated with CVM requiring cardiac surgery and/or splenic anomalies. ClinicalTrials.gov: NCT02389049, NCT00323167

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.

Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD-an international participatory cohort study collecting information directly from people with PCD. The baseline questionnaire inquired about tests used for PCD diagnosis. Using logistic regression, we investigated factors associated with measurement of nasal nitric oxide (nNO), biopsy for electron or video microscopy, and genetic testing. We included data from 747 participants (60% females) from 49 countries worldwide with median age 27 (interquartile range 12-44). Most (92%) reported diagnostic tests for PCD. Participants reported measurements of nNO (342; 49%), biopsy samples (561; 75%), and genetic tests (435; 58%). The reported use of individual tests, such as genetics, varied between countries from 38% in Switzerland to 68% in North America. Participant recall of test type also differed between countries with lowest recall in Switzerland. One-third (232; 36%) of participants reported all three tests (nNO, biopsy, and genetics). Recently diagnosed people reported more tests [nNO odds ratio (OR) 2.2, 95% Confidence Interval (CI) 1.5-3.2; biopsy OR 3.2, 95%CI 2.1-4.9; genetics OR 4.7, 95%CI 3.2-6.9] and those with situs abnormalities fewer tests (nNO OR 0.5, 95%CI 0.4-0.7; biopsy OR 0.5, 95%CI 0.4-0.8; genetics OR 0.7, 95%CI 0.5-0.94). Our results indicate PCD diagnostic testing differed widely around the world and many patients received incomplete diagnostic work-up based only on clinical features or single tests. People diagnosed long ago and those with situs abnormalities possibly benefit from supplementary testing to refine their diagnosis as a prerequisite for personalized medicine.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

Cardiovascular Abnormalities Associated with Heterotaxy Syndrome: A Case Series

Abstract Heterotaxy syndromes result from the failure of normal lateralization, resulting in the abnormal arrangement of cardiothoracic and abdominal viscera. These are associated with a disproportionate morbidity and mortality rate, mandating early diagnosis, and surgical intervention. Accurate determination of situs, as well as congenital abnormalities, is necessary for surgical planning and determination of postoperative outcome and quality of life. In this case series, we present the spectrum of cardiac, pulmonary, and systemic vascular abnormalities associated with heterotaxy syndromes. Cardiac computed tomography angiography (CTA) was performed on 10 patients with heterotaxy syndromes diagnosed on echocardiography. We found that the most common congenital heart disease associated with heterotaxy in our case series was atrioventricular septal defect. Among the extracardiac vascular abnormalities, pulmonary infundibular stenosis, right-sided aortic arch, and double superior vena cava were common. Moreover, not all cases displayed congruence between cardiac, tracheobronchial, and visceral situs. In conclusion, CTA is useful in the diagnosis of intracardiac and extracardiac vascular abnormalities associated with heterotaxy syndromes. In addition, it gives valuable information about the tracheobronchial situs, visceral situs, and other congenital abnormalities.

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

BackgroundAbnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function.ResultsHere, we describe five unrelated family trios with multisystem ciliopathy syndromes, including situs abnormality, complex congenital heart disease, nephronophthisis or neonatal cholestasis. Through whole-exome sequencing and Sanger sequencing confirmation, we identified compound heterozygous mutations of TTC12 and TTC21B in six affected individuals of Chinese origin. These nonsynonymous mutations affected highly conserved residues and were consistently predicted to be pathogenic. Furthermore, ex vivo cDNA amplification demonstrated that homozygous c.1464 + 2 T > C of TTC12 would cause a whole exon 16 skipping. Both mRNA and protein levels of TTC12 were significantly downregulated in the cells derived from the patient carrying TTC12 mutation c.1464 + 2 T > C by real-time qPCR and immunofluorescence assays when compared with two healthy controls. Transmission electron microscopy analysis further identified ultrastructural defects of the inner dynein arms in this patient. Finally, the effect of TTC12 deficiency on cardiac LR patterning was recapitulated by employing a morpholino-mediated knockdown of ttc12 in zebrafish.ConclusionsTo the best of our knowledge, this is the first study reporting the association between TTC12 variants and ciliopathies in a Chinese population. In addition to nephronophthisis and laterality defects, our findings demonstrated that TTC21B should also be considered a candidate gene for biliary ciliopathy, such as TTC26, which further expands the phenotypic spectrum of TTC21B deficiency in humans.

Abnormalities of Cardiac Situs and Heart Disease Diagnosed by Echocardiography in Patients with Biliary Atresia

Background: Left isomerism (LI) is a common finding in patients with biliary atresia (BA), and it can be identified by echocardiography. Several comorbidities may be present in patients with LI, including heart disease. Objective: To investigate the prevalence of LI and heart disease in children (< 18 years of age) with BA followed-up at Hospital das Clínicas, UFMG. Methods: This is a cross-sectional study involving patients diagnosed with BA between February 2016 and April 2020 who underwent transthoracic echocardiography [...]

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disease is genetically and phenotypically heterogeneous, with causative mutations in > 50 genes identified, and clinical phenotypes ranging from mild to severe. Absence of ODAD1 (CCDC114), a component of the outer dynein arm docking complex, results in a failure to assemble outer dynein arms (ODAs), mostly immotile cilia, and a typical PCD phenotype. We identified a female (now 34 years old) with an unusually mild clinical phenotype who has a homozygous non-canonical splice mutation (c.1502+5G>A) in ODAD1. To investigate the mechanism for the unusual phenotype, we performed molecular and functional studies of cultured nasal epithelial cells. We demonstrate that this splice mutation results in the expression of a truncated protein that is attached to the axoneme, indicating that the mutant protein retains partial function. This allows for the assembly of some ODAs and a significant level of ciliary activity that may result in the atypically mild clinical phenotype. The results also suggest that partial restoration of ciliary function by therapeutic agents could lead to significant improvement of disease symptoms.

Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies

Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunction is common in heterotaxy and other situs abnormalities (H/SA) and may increase post-operative complications. We hypothesized that patients with H/SA have increased respiratory and renal morbidities and increased in-hospital mortality after Fontan procedure. We queried the Pediatric Health Information System database for hospitalizations with ICD-9/10 codes for Fontan procedure in patients aged 1 through 11years from 2004 to 2019. H/SA was identified by codes for dextrocardia, situs inversus, asplenia/polysplenia, or atrial isomerism and compared to non-H/SA controls. Outcomes were in-hospital mortality or heart transplantation, ECMO, hemodialysis, length of stay (LOS), and mechanical ventilation or vasoactive medication use ≥ 4days. We adjusted estimates with multivariable logistic regression. Of 7897 patients at 50 centers, 1366 (17%) met criteria for H/SA. H/SA had worse outcomes for all study measures: death/transplantation (1.9 vs 1.1%, OR 1.74 (95% CI 1.01-3.03); p = 0.047), ECMO (3.7 vs 2.3%, OR 1.74 (1.28-2.35); p < 0.001), hemodialysis (2.1 vs 1.2%, OR 1.66 (1.06-2.59); p = 0.026), prolonged mechanical ventilation (13.2% vs 7.6%, OR 1.85 (1.53-2.25); p < 0.001) and vasoactive medication use (29.4 vs 19.7%, OR 1.65 (1.43-1.90), and longer LOS (11 (8-17) vs 9 (7-14) days; p < 0.001). H/SA is associated with increased cardiovascular, renal, and respiratory morbidity, as well as in-hospital mortality after Fontan procedure. Attention to renal and respiratory needs may improve outcomes in this difficult population. The relationship between ciliary dysfunction and lung and renal morbidity should be explored further.

Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia.

Patients with primary ciliary dyskinesia (PCD) may present with different clinical findings at different ages, and age at diagnosis may differ. We aimed to review clinical factors that affected age at diagnosis of patients with PCD. All 70 patients with PCD who were followed in our pediatric pulmonology department were included. Demographic features, clinical findings, PrImary CiliAry DyskinesiA Rule (PICADAR) scores and pulmonary function tests of patients were recorded and clinical factors that affected age at diagnosis were evaluated. The mean age at diagnosis was 8.3 ± 4.6 years. Most of patients (95.7%) had a persistent wet cough. The mean PICADAR score was 6.5 ± 3.2, and there was a negative correlation between PICADAR and age at diagnosis (r = -0.271, p = .023). The mean ages at diagnosis of patients with situs abnormality and recurrent wheezing were earlier than in patients without situs abnormality and recurrent wheezing (6.7 ± 4.3 and 6.8 ± 4.3, p = .002 vs. 9.8 ± 4.3 and 9.0 ± 4.6 years, p = .040, respectively). The mean age at diagnosis of patients with bronchiectasis was later than in patients without bronchiectasis (10.8 ± 3.9 and 6.9 ± 4.4 years, p = .001). Other clinical features were not statistically significant according to age at diagnosis (p > .05). There was no statistically significant relation between age at diagnosis and sex, sibling or relative with PCD and parental consanguinity (p > .05). Although most patients diagnosed with PCD had symptoms, the diagnosis may be delayed. High PICADAR score is a useful guide to evaluate PCD. Situs abnormality and recurrent wheezing could be clues for early diagnosis of PCD. Early diagnosis of PCD may prevent bronchiectasis.

A pediatric case of productive cough caused by novel variants in DNAH9

We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).

A Rare Association of Dextrocardia and Transitional AV Canal Defect in a Child with Conjugated Hyperbilirubinemia and Subclinical Congenital Hypothyroidism

Dextrocardia is an abnormal situs which occurs when the apex of the heart points to the right and inferiorly. Dextrocardia could occur in isolation or may occur concomitantly with other cardiac lesions. It could also occur with abnormal rotation of the atrium and visceral organs (situs inversus totalis). Complex cardiac anomalies coexisting with dextrocardia with certain endocrinepathies are rare occurrence. We report a 2-month-old female who presented with breathlessness, cyanosis and subclinical features of congenital hypothyroidism from birth. The child was previously managed as neonatal jaundice, but after phototherapy, clinical signs of jaundice persisted. Further examination revealed splitting of the second heart sound and a very faint grade 2 ejection systolic murmur located at the second left intercostal space. Chest radiograph and echocardiography revealed dextrocardia and transitional Atrio-Ventricular (AV) canal defect respectively. He is presently been worked up for AV canal repair and thyroid assay result is been waited. Dextrocardia coexisting with AV canal defect and congenital hypothyroidism are rare combination of complex cardiac defect. High index of suspicion, timely diagnosis and appropriate referral will help avert morbidities and mortality associated with this lesion

Unusual Combination of Anomalous Connection of the Left Pulmonary Veins and Aortic Arch Anomaly Presenting as Abnormal Three Vessel View in the 2nd Trimester US Scan

AbstractPartial anomalous pulmonary venous drainage is often missed antenatally unless a complex congenital heart defect is associated. Likewise, isolated fetal coarctation of aorta has only a 60–70% chance to be diagnosed in the second trimester. The combination of these two conditions (PAPVC and COA), in the absence of situs abnormality or syndromic association is rare and not much reported in the literature. We are reporting a fetal heart which presented with apparent hypoplasia of the left ventricle and ascending aorta, as well as significant dilatation of the right atrium, right ventricle and pulmonary artery at 22 weeks of gestation. To begin with, we strongly suspected a left sided obstructive lesion until we noticed a 4th channel in the three vessel view (3VV) and dilated innominate vein in the absence of a dilated coronary sinus in the 4 chamber view. This led to a diagnosis of supracardiac PAPVC in combination with an arch anomaly. The pregnancy was continued up to 37–38 weeks when she underwent C-section for an obstetric indication. The baby underwent surgical intervention postnatally.

Abstract 15410: Post-operative Outcomes After Fontan Procedure in Patients With Heterotaxy and Other Situs Anomalies

Background: Heterotaxy is a multisystem disorder of situs often associated with cardiac, immune, and gastrointestinal abnormalities. Heterotaxy and other situs abnormalities (H/SA) may share ciliary dysfunction as an embryologic origin. Extracardiac manifestations of H/SA may contribute to increased morbidity and mortality after total cavopulmonary connection (Fontan) procedure. We hypothesized that patients with H/SA have worse postoperative outcomes after Fontan than patients without H/SA. Methods: We queried the Pediatric Health Information System (PHIS) database for hospitalizations with ICD-9/10 codes for Fontan procedure in patients aged 1 to 12 years from 2004 to 2019. Those coded for dextrocardia, situs inversus, asplenia/polysplenia, and atrial isomerism were defined as H/SA. Outcomes were in-hospital all-cause mortality or heart transplantation, post-operative ECMO, dialysis, postsurgical length of stay (LOS), and mechanical ventilation &gt;4 days. Outcomes were compared between H/SA and non-H/SA controls with chi-squared or rank-sum test (reported as median (IQR)), and statistically adjusted for surgical center, age, sex, race, genetic anomaly, and pre-operative support with multivariate logistic regression (reported as adjusted odds-ratio (95% CI)). Results: Of 7,897 patients who underwent Fontan at 50 PHIS centers, 1,366 (17%) met criteria for H/SA. Patients with H/SA versus non-H/SA were older (3.7 (2.9-4.8) vs 3.4 (2.7-4.2) years; p&lt;0.001), more female (44 vs 40%, p=0.005), and Asian or Hispanic (35% vs 24%, p&lt;0.001). H/SA had higher rates of discharge death/transplantation (1.9 vs 1.1%, aOR 1.76 (1.02-3.04); p=0.042), post-operative ECMO (3.7 vs 2.3%, aOR 1.73 (1.28-2.33); p&lt;0.001), dialysis (2.1 vs 1.2%, aOR 1.66 (1.06-2.59); p=0.026), prolonged intubation (13.2% vs 7.6%, aOR 1.86 (1.53-2.25); p&lt;0.001), and longer LOS (11 (8-17) vs 9 (7-13) days; p&lt;0.001). Conclusions: We observed increased mortality and postoperative complications in this largest report to date on patients with H/SA after Fontan. We postulate that ciliary dysfunction may contribute to increased lung and renal morbidity, and should be explored further. Adjustment for anatomic complexity and hemodynamics are required for further study .

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45−/− mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module.

Primary ciliary dyskinesia: amajor player in a bigger game.

Primary ciliary dyskinesia (PCD) is an inherited disorder of clinical and genetic heterogeneity resulting from mutations in genes involved in the transport, assembly and function of motile cilia. The resulting impairment in mucociliary clearance means patients suffer from chronic progressive lung disease, bronchiectasis, rhinosinusitis and middle ear disease. Subfertility is common to both male and female patients. Situs abnormalities occur in around half of patients, with a subgroup suffering more complex situs arrangements where congenital heart defects or other organ abnormalities frequently coexist. Variations from the classical PCD phenotype are increasingly recognised where overlapping features across a range of motile and nonmotile ciliopathies are redefining our approach to both diagnosis and management of these complex conditions. PCD offers an ideal opportunity for direct visualisation of ciliary function and structure, following nasal brush biopsy, allowing opportunities for researchers to directly interrogate the downstream impact of loss of function mutations. In turn, this has led to rapid advances in the development of new diagnostic tests. These advances mean that PCD is an excellent disease model for understanding the genetic and mechanistic causes of the clinical phenotype for all respiratory ciliopathies. Furthermore, the overlapping role of motile ciliary defects in a wider set of complex and syndromic disorders related to loss of function mutations in primary, nonmotile cilia has been recognised. As we better understand the role of ciliary defects in a broad spectrum of diseases, we should aim to map out a framework through which we can identify, diagnose and treat all respiratory ciliopathies.Key pointsPrimary ciliary dyskinesia is just one of a group of conditions where a heterogeneous array of genetic mutations affect the assembly or structure of motile cilia.Overlapping phenotypes between motile and nonmotile ciliopathies are redefining the diagnostic and therapeutic approach to encompass all ciliopathy patients with a respiratory phenotype.An extended diagnostic algorithm may be required to capture the majority of cases with a respiratory ciliopathy, including patients with syndromic ciliopathies.The terminology around disorders of motile cilia is becoming more descriptive to better reflect the heterogeneity and underlying disease mechanisms across the spectrum of respiratory ciliopathies.Educational aimsTo summarise the existing knowledge base around the disease mechanisms for respiratory ciliopathies, including primary ciliary dyskinesia (PCD).To explore and understand the reasons for changing terminology around respiratory ciliopathies.To emphasise key messages around the diagnosis and treatment of all ciliopathies.Diagnosing PCD is complex and time consuming, and there is no single stand-alone test that can confirm or exclude a diagnosis in all cases.

Isolated levocardia with situs inversus without cardiac abnormality in fetus: prenatal diagnosis and management

Objective Isolated levocardia is a situs abnormality that the heart is in the normal levo position, but the abdominal viscera are in dextro position. Most cases are accompanied by structural heart anomalies. In this case, we aimed to present a fetus with isolated levocardia without cardiac abnormality. Case(s) The mother was referred to our clinic with a suspicion of fetal dextrocardia at 22 weeks of gestation. When detailed examination was planned by ultrasonography isolated levocardia was detected in fetus. There were no cardiac abnormalities in fetal echocardiography. Fetus was followed up until delivery and newborn was examined again at postnatal period. No problem was detected until the age of 2 years. Conclusion Fetal situs should be assessed by ultrasonography in all pregnant women.

Situs ambiguous anomaly during laparoscopic cholecystectomy in an adult female

Situs anomalies are rare structural defects affecting 0.01% of general population. They present with multisystem structural defects mostly involving cardiovascular, respiratory and GI systems. Situs abnormality with presence of multiple spleen is termed as left atrial isomerism with anatomical and structural differences to its countertype situs ambiguous with asplenia (right atrial isomerism). In this case report, we present an adult case of situs ambiguous anomaly which was diagnosed incidentally during laparoscopic cholecystectomy. The patient had enlarged left lobe of liver, multiple splenules on right side, malrotated small and large gut, interrupted inferior vena cava with azygos continuation, and bilateral bilobed lungs. It is concluded that variations in situs ambiguous cases differ and a single description is not possible. It is crucial to reveal these variations by using imaging modalities and being aware of them prior to surgery and invasive intervention to prevents the possible risks and complications.