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Background: Situs inversus totalis is a rare congenital condition where there is complete inversion of thoracic and abdominal organs. There is limited information on the laparoscopic treatment of rectal cancer in patients with situs inversus totalis accompanied by other underlying conditions., Case Presentation: We report the case of a 61-year-old Chinese male with rectal cancer accompanied by situs inversus totalis, malignant middle cerebral artery infarction, stenosis of the right internal carotid artery and anterior cerebral artery, and diabetes who underwent a successful laparoscopic radical resection of rectal cancer. We discuss the diagnosis, treatment, and considerations for patients with situs inversus totalis accompanied by other underlying conditions. We performed relevant inspections, organized multidisciplinary team discussions, and made sufficient perioperative preparations. The patient had no intraoperative complications and was successfully discharged from the hospital. Pathological stage was T3N0M0, and the patient did not develop tumor recurrence or metastasis in the 24-month follow-up period., Conclusions: We conclude that patients with rectal cancer with situs inversus totalis, even when accompanied by underlying diseases, can undergo surgical treatment with adequate preparation, and surgical treatment is the most effective treatment method., Competing Interests: Declarations. Ethical approval and consent to participate: Not applicable. Consent for publication: All authors of the manuscript have read and agreed to its content and are accountable for all aspects of the accuracy and integrity of the manuscript in accordance with ICMJE criteria; and that the article is original, has not already been published in a journal, and is not currently under consideration by another journal. Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Competing interests: No competing interests., (© 2024. The Author(s).)

In this issue of Med, Guo et al. 1 describe their observed association of maternal SARS-CoV-2 infection in early (4-6 weeks) pregnancy with a confirmed fetal diagnosis of situs inversus congenital heart disease. Using sophisticated genomic tools and population-based statistical modeling, the study's authors present a very convincing argument causally linking maternal SARS-CoV-2 infection and resultant fetal situs inversus., Competing Interests: Declaration of interests The authors declare no competing interests. K.M.A. and A.S. have no conflicts or declaration of interests with any of the listed authors, their listed institutions and hospital affiliations, or their funding agency (National Key R&D Program of China)., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: A dramatic increase in fetal situs inversus diagnoses by ultrasound in the months following the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) surge of December 2022 in China led us to investigate whether maternal SARS-CoV-2 exposure could be associated with elevated risk of fetal situs inversus., Methods: In this multi-institutional, hospital-based, matched case-control study, we investigated pregnant women who underwent ultrasonographic fetal biometric assessment at gestational weeks 20-24 at our hospitals. Each pregnant woman carrying a situs inversus fetus was randomly matched with four controls based on the date of confinement. Relevant information, including SARS-CoV-2 infection, and other potential risk factors were collected. Conditional logistic regression was used to test possible associations between fetal situs inversus and SARS-CoV-2 infection at different gestational weeks as well as individual risk factors., Findings: A total of 52 pregnant women diagnosed with fetal situs inversus between January 1 and October 31, 2023 and 208 matched controls with normal fetuses were enrolled. We found no association between an increased risk of fetal situs inversus with gestational SARS-CoV-2 infection or with other risk factors. However, fetal situs inversus was significantly associated with SARS-CoV-2 infection specifically in gestational weeks 4-6 (adjusted odds ratio [aOR] 6.54 [95% confidence interval 1.76-24.34]), but not with infection at other gestational ages, after adjusting for covariates., Conclusions: Increased risk of fetal situs inversus is significantly associated with maternal SARS-CoV-2 infection at gestational weeks 4-6, corresponding to the fetal developmental window for visceral lateralization in humans., Funding: National Key R&D Program of China, etc., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Retrocaval ureter is a rare congenital anomaly. It usually occurs on the right side and cases on the left side without accompanying conditions such as situs inversus or double inferior vena cava (IVC) are uncommon. Instances of left retrocaval ureter without situs inversus or double IVC are rarely reported in the literature, and there are no cases presented sonographically. In this case, we present a demonstrative sonographic and tomographic images of a left-sided Type 1 retrocaval ureter case where situs inversus and double IVC were not present. In cases where hydronephrosis is detected on ultrasound, a medially displaced ureter should raise suspicion for retrocaval ureter., (© 2024 Wiley Periodicals LLC.)

Background: Situs inversus totalis (SIT), a rare recessive autosomal disease, involves the complete transposition of the thoracic and abdominal viscera in the left-right axis. Patients with SIT combined with lung cancer are extremely uncommon., Case Presentation: We present a case of a 57-year-old woman with SIT who underwent uniportal video-assisted thoracoscopic left middle lobectomy for adenocarcinoma of the lung. The procedure was performed safely with adequate anatomical identification and careful intraoperative manipulation based on the preoperative three-dimensional-computed tomography bronchography and angiography (3D-CTBA). The patient's perioperative period was uneventful, and no recurrence was observed 2 year postoperatively., Conclusion: With the preoperative planning of the 3D-CTBA, uniportal video-assisted thoracoscopic lobectomy in lung cancer patients with sit can be performed safely and effectively., (© 2024. The Author(s).)

This study presents the modified Cordes method, a novel ultrasonographic technique that provides a precise and practical evaluation of fetal situs during pregnancy, particularly in the first and early second trimesters. This method entails precisely aligning the probe and hand to obtain a clear image of the fetal thorax in the axial plane. The fundamental procedures involve ascertaining the initial location of the fetal head, rotating the probe, aligning the thorax at the center, and positioning the left hand to clearly identify the fetal situs. Tests conducted in many pregnancies have verified that the modified Cordes approach offers prompt and precise identification of fetal situs and is more accessible to acquire, particularly for new practitioners. The modified Cordes approach is a straightforward and reliable technique for establishing the position of the fetus. Its application during the first and early second trimesters improves diagnostic accuracy by minimizing the chances of misinterpretation. This method offers benefits by making the process of determining fetal situs more objective and straightforward for practitioners with varying degrees of experience., (© 2024 Wiley Periodicals LLC.)

Background: Situs inversus (SI) is a rare congenital anomaly in which systemic organs and vessels are positioned in a mirror image of their normal positions. An interesting issue regarding individuals with such a condition is whether they also have reversed brain asymmetries. Most of studies on this issue indicate that, similarly to many people with normal visceral alignment, patients with SI have a left hemispheric dominance for language functions., Case Presentation: We report a rare occurrence of anomalous cerebral dominance for language in a patient with complete situs inversus. The right-handed patient developed aphasia after carotid stenting, and brain magnetic resonance imaging showed cerebral infarction in the right parietal lobe., Conclusion: Anomalous cerebral dominance for language and visceral situs inversus in our patient both may result from a single, genetically coded atypicality of developmental gradient., (© 2024. The Author(s).)

Background: Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus., Methods: In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array (SNP-arry) combined with whole-exome sequencing (WES)., Results: Although the diagnostic rate of copy number variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy., Conclusion: This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Previous research reported reversal of the prototypical brain torque in individuals with mirrored visceral topology (situs inversus totalis, SIT). Here, we investigate if typical asymmetry of the posterior intracranial venous system is also reversed in SIT and whether the direction and magnitude of this asymmetry is related to the direction and magnitude of the brain torque. Brain structural MRI images of 38 participants with SIT were compared with those of 38 matched control participants. Occipital and frontal petalia and bending were measured using a standardized procedure. In addition, representative sections of the left and right transverse sinuses were segmented, and their respective volumes determined. Participants with SIT showed general reversal of occipital and frontal petalia and occipital bending, as well as reversal of typical transverse sinus asymmetry. Transverse sinus volume was significantly correlated with several torque measures, such that the smaller transverse sinus was associated with a larger ipsilateral occipital petalia, contralateral occipital bending, and ipsilateral frontal bending. We propose an anatomical mechanism to explain occipital petalia and bending, and conclude that anatomical constraints imposed by the asymmetry of the posterior venous system provide and additional account to elucidate the formation of the human brain torque., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

We herein report a 76-year-old woman with situs inversus and dextrocardia who underwent pacemaker implantation for sick sinus syndrome. Situs inversus with dextrocardia, which is frequently associated with cardiovascular malformation, is a rare congenital malformation wherein the thoracic and abdominal viscera are inverted compared with their normal positions. This renders the implantation of cardiac devices an arduous task. We therefore decided to gather preoperative anatomical information on patients with situs inversus and dextrocardia. We used three-dimensional computed tomography to collect preoperative information in order to facilitate the safe implantation of cardiac devices.

Dextrocardia associated with situs inversus totalis is a rare congenital anomaly. We herein report a patient with this condition and ischemic coronay artery disease who underwent emergency surgical myocardial revascularization. A 76-year-old man was admitted to our hospital with a diagnosis of unstable angina pectoris. He had incessant ventricular fibrillation attack on the second day of hospitalization. Emergent coronary angiography revealed total obstruction of the anatomically left anterior descending and right coronary arteries, and severe stenosis in the anatomically left circumflex artery. Emergent off-pump coronary artery bypass using saphenous vein grafts was successfully performed. Intraoperatively, the main surgeon continuouly stood on the patient's right side except during anastosiso of a vein graft to the left circumflex artery. Postoperative course was almost uneventful aside from transient renal replacement and prolonged ventilation.

Situs inversus totalis is a rare congenital malformation in which organs are positioned in a mirror-image relationship to normal conditions. It often presents with vascular and biliary malformations. Only a few reports have pointed out the surgical difficulties in patients with situs inversus totalis, especially in those with perihilar cholangiocarcinoma. This report describes a 66-year-old male patient who underwent left hemihepatectomy (S5, 6, 7, and 8) with combined resection of the caudate lobe (S1), extrahepatic bile duct, and regional lymph nodes for perihilar cholangiocarcinoma with situs inversus totalis. Cholangiocarcinoma was mainly located in the perihilar area and progressed extensively into the bile duct. Surgery was performed after careful evaluation of the unusual anatomy. Although several vascular anomalies required delicate manipulation, the procedures were performed without major intraoperative complications. Postoperatively, bile leakage occurred, but the patient recovered with drainage treatment. The patient was discharged on the 29th postoperative day. Adjuvant chemotherapy with S-1 was administered for approximately 6 months. There was no recurrence 15 months postoperatively. Appropriate imaging studies and an understanding of unusual anatomy make surgery safe and provide suitable treatment for patients with situs inversus totalis., (© 2024. Japanese Society of Gastroenterology.)

Purpose: We aimed to examine the correlation between clinical characteristics and the pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD)., Methods: We conducted a retrospective single-center study in patients with PCD followed at the University Hospitals Leuven. We included patients with genetically confirmed PCD and described their genotype, data from ultrastructural ciliary evaluation and clinical characteristics. Genotype/phenotype correlations were studied in patients with the most frequently involved genes., Results: We enrolled 74 patients with a median age of 25.58 years. The most frequently involved genes were DNAH11 (n = 23) and DNAH5 (n = 19). The most frequent types of pathogenic variants were missense (n = 42) and frameshift variants (n = 36) and most patients had compound heterozygous variants (n = 44). Ciliary ultrastructure (p < 0.001), situs (p = 0.015) and age at diagnosis (median 9.50 vs 4.71 years, p = 0.037) differed between DNAH11 and DNAH5. When correcting for situs this difference in age at diagnosis was no longer significant (p = 0.973). Patients with situs inversus were diagnosed earlier (p = 0.031). Respiratory tract microbiology (p = 0.161), lung function (cross-sectional, p = 0.829 and longitudinal, p = 0.329) and chest CT abnormalities (p = 0.202) were not significantly different between DNAH11 and DNAH5 variants., Conclusion: This study suggests a genotype-phenotype correlation for some of the evaluated clinical characteristics of the two most frequently involved genes in this study, namely DNAH11 and DNAH5., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

We present a rare case of tetralogy of Fallot accompanied with dextrocardia, situs inversus and anomalous origin of the right coronary artery. Total repair was accomplished successfully using a minimally invasive left axillary thoracotomy., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Rationale: Situs inversus totalis is a rare malposition of organs that typically involves lesions in the respiratory, circulatory, or urinary systems. Cases of congenital hemivertebrae combined with situs inversus totalis are extremely rare and have limited reports., Patient Concerns: We report a 2.5 years old girl with 2 congenital hemipyramids and complete visceral inversion who ultimately underwent hemilaminectomy., Diagnosis: Congenital hemivertebrae combined with situs inversus totalis., Intervention: The patient underwent hemilaminectomy., Outcomes: The spinal deformity was corrected., Lessons: For patient with spinal deformities combined with situs inversus totalis, surgery can be an effective treatment method. But we also need to be vigilant about the dysfunction of various systems., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

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., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Situs inversus totalis (SIT) is a rare congenital anomaly in which the arrangement of the visceral organs is completely left-right mirrored. A previous study by our lab suggests that SIT (N = 15) correlated with more heterogeneous asymmetrical brain organization and increased left-handedness. In addition, visceral reversal correlated with poorer cognitive performance, especially when hemisphere organization was atypical. The current study sought to replicate these findings in a larger sample. We scanned 23 volunteers with SIT as well as an equal number of controls with usual organ arrangement, and used fMRI to determine their hemisphere dominance for two left hemisphere functions (language and manual praxis) and two right hemisphere functions (spatial attention and face recognition). Effects of SIT etiology were explored by pooling data from the original cohort with the replication sample. Our results reveal that each of those four cognitive functions demonstrated the expected population dominance in SIT, albeit they were less pronounced - but not significantly so - compared to controls. Unusual patterns of hemispheric crowding and mirror-reversal of functional brain organization was observed more often in SIT (48%) than in the controls (30%), but this difference also did not reach statistical significance. However, left-handedness was found to be significantly more common in SIT (26%) than in the overall population (10.6%). Finally, cognitive ability, as assessed by a neuropsychological test battery, was not associated with organ situs or hemisphere organization. Taken together, our data adds to the growing evidence that the determinants of visceral and neural asymmetries are largely independent from one another and that complete situs inversus does not co-occur with an obligatory transposition of the brain's functional architecture. There nevertheless might be instances in which (genetic) mechanisms could simultaneously cause complete visceral reversal and atypical brain laterality., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background: Situs inversus with levocardia is a rare anomaly in which the heart is present in the left chest but the abdominal viscera are transposed. It is caused by a single incomplete penetration of an autosomal recessive gene. It is unclear what exactly causes situs inversus with levocardia. Even if situs inversus can be identified following a comprehensive physical examination, it is now possible to validate the results and search for further information and pathologies since medical imaging is so widely accessible., Case: A 15-year-old Oromo male child from a remote area of Bale Zone presented to the Goba Referral Hospital's medical emergency outpatient department complaining of periumbilical pain that had persisted for 4 months. He frequently came to our hospital and was admitted three times with the same problem. Objectively, there was tenderness over the left lower quadrant and periumbilical area. The sonographic evaluation discovered the transposition of the liver and spleen with cardiac apex on the left side. He received conservative treatment with ceftriaxone 1 g intravenous twice a day and metronidazole 500 mg intravenous for 5 days, and he went home improved., Conclusion: Isolated levocardia is a rare form of situs inversus in which the heart is in the traditional levo position while the abdominal organs are in the dextro position. What causes situs inversus with levocardia is unknown. Despite the fact that situs inversus can be diagnosed after a thorough physical examination, medical imaging has allowed us to confirm the findings as well as understand more about diseases. Due to the severity of an underlying heart defect, situs inversus with levocardia has a dismal prognosis., (© 2023. The Author(s).)

Competing Interests: The authors declare that they have no conflict of interest.

Competing Interests: Clara Yzet received fees from AbbVie, Takeda, Galapagos, Jansen, Pfizer.

Situs inversus totalis (SIT) is a rare anatomic anomaly representing 180° inversion of all internal organs. We report a case of laparoscopic living donor nephrectomy in a donor with SIT. A 55-year-old man volunteered to provide a living kidney source for his son. The donor was in good physical condition, with no clinical history of obesity, hypertension, diabetes, and other abnormalities. Preoperative X-ray thoracic and abdominal scans showed that the donor had a total organ transposition inversus. Computed tomographic renal vascular three-dimensional reconstruction scan showed that the patient had 2 left renal arteries and 1 right renal artery. All data collected comply with the Helsinki Congress and the Declaration of Istanbul. We chose to perform a transabdominal route laparoscopic living donor nephrectomy of the right kidney. The donor did not experience operation-related complications and was discharged on the fourth postoperative day. The recipient did not have a rejection reaction, and the recipient recovered successfully. This case illustrates that laparoscopic living donor nephrectomy is fully feasible in this population., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Dextrocardia is a rare cardiac malposition that was first described in 1606. Mirror-image dextrocardia is characterized by a mirror-image change of the normal position of the heart. Most cases are accompanied by situs inversus viscerum, whereas only 3% to 10% of cases are associated with intracardiac anomalies. Valve surgery for acquired valvular lesions in patients with mirror-image dextrocardia with situs inversus is rare. Diagnosing situs anomalies in adults is important to prevent errors during surgical operations, emergency procedures, or interventional operations. In this report, we present two cases of mitral regurgitation in patients with mirror-image dextrocardia. One patient had mirror-image dextrocardia with subacute infective endocarditis and mitral regurgitation, and the other patient had mirror-image dextrocardia with mitral Carpentier type I regurgitation. In both patients, mitral valve repair was successfully performed using a transseptal approach.

The Konno-Rastan operation is performed for relief of complex left ventricular outflow obstruction with a small aortic annulus. When associated with situs inversus and dextrocardia, important aspects should be kept in mind due to the mirror-image anatomy. In this report, we present a case of a 10-year-old child with the diagnosis of recurrent diffuse subaortic stenosis and situs inversus and dextrocardia who underwent the Konno-Rastan operation successfully and was asymptomatic with normal physical activity after a follow-up period of one year.

Background: Dextrocardia with situs inversus (DSI) is a very rare congenital anomaly. Catheter manipulation and ablation of atrial fibrillation (AF) in patients with this anatomical variant is challenging for the operators. This case report presents a safe and effective AF ablation guided by the robotic magnetic navigation (RMN) system in combination with intracardiac echocardiograhy (ICE) in a patient with DSI., Case Presentation: A 64-year-old male with DSI was referred for catheter ablation of symptomatic, drug-refractory paroxysmal AF. One transseptal access was achieved via the left femoral vein under the guidance of ICE. The three-dimensional reconstruction of the left atrium and the pulmonary veins (PVs) were performed by the magnetic catheter using the CARTO and the RMN system. Then, the electroanatomic map and pre-acquired CT images were merged. Finally, bilateral circumferential ablation lines were delivered around the ipsilateral PV ostia to achieve complete PV isolation (PVI)., Conclusions: This case demonstrates that AF catheter ablation under the guidance of the RMN system using ICE is feasible and safe in a patient with DSI. Moreover, the combination of these technologies broadly facilitates treatment of patients with complex anatomy, while reducing the risk of complications., (© 2023. The Author(s).)

Background: Situs inversus totalis is a very rare congenital anatomical variation, in which all thoracic and abdominal organs are right-left inverted. This condition is associated with an increased risk of organ malformations including ectopic kidney, which is a very rare combination., Case Presentation: A 56-year-old male presented with colicky left iliac pain associated with nausea, vomiting, and irritative lower urinary symptoms. The patient has a medical history of recurrent lower urinary infections and a family history of situs inversus totalis. Radiological images demonstrated dextrocardia, situs inversus totalis of all the abdominal organs, and an ectopic pelvic kidney on the left side, with 4 stones inside it. Left nephrectomy was performed due to extensive renal damage. At discharge and during follow-up, the patient's condition was satisfactory and stable., Conclusions: The ectopic kidney may present diagnostic and therapeutic challenges when associated with situs inversus., (© 2022. The Author(s).)

A 71-year-old lady with dextrocardia and pure aortic regurgitation was treated with transcatheter aortic valve replacement using the transapical J-valve system. Good clinical and echocardiographic results were demonstrated at one-year follow-up. Herewith we describe this simple, safe, and a minimally invasive aortic valve replacement option for this condition.

Background: Situs inversus totalis (SIT) is a rare congenital anomaly characterized by a complete transposition of all the viscera. SIT cases were usually reported because of the presence of tumors, leading to false association between them. Therefore, any research that advances our understanding on SIT is highly required. This study firstly describes a very rare case of SIT with "jumping" metastasis to pancreas of gallbladder carcinoma., Case Presentation: A 69-year-old female patient presented at our hospital with complaints of one month of epigastric pain was studied. She had not sought for treatment prior the visit. Imaging examinations of this patient revealed SIT and a variation of the common hepatic artery with concomitant tumors of gallbladder and pancreas. However, there was no evidence of distant metastases beyond the abdominal cavity. She underwent a combination of radical cholecystectomy, total pancreatectomy, splenectomy and hepatic artery-splenic artery reconstruction. Histological analyses revealed metastasis of the gallbladder carcinoma in to the pancreas. Although the patient opted against chemotherapy, she survived without tumor for 16 months following the surgery. A review of the current literature on association with SIT and tumor occurrence was presented., Conclusions: It is a great surgical challenge for the resection of multicenter hepatobiliary and pancreatic tumors in such rare SIT anatomical abnormalities with vascular variants. A reliable surgical plan based on detailed preoperative imaging and intraoperative anatomical exploration is crucial to achieving radical resection., (© 2022. The Author(s).)

Background: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and SIT. Targeted investigations for organ laterality defects are not universally recommended in PCD consensus statements. Without investigations beyond chest radiography (CXR), clinically significant defects may go undetected leading to increased morbidity. We hypothesize that clinically significant SA defects remain undetected on CXR and targeted investigations are needed to detect various laterality defects associated with morbidity., Methods: This retrospective study collected data from PCD clinics at two Canadian children's hospitals from 2012 to 2020. Participants <30 years old with a confirmed or clinical diagnosis of PCD were enrolled. CXR images were reviewed, and reports of other targeted investigations, including chest computed tomography, abdominal ultrasound, echocardiogram, upper gastrointestinal series, and splenic function studies, were extracted from medical records. Situs classifications from CXR alone versus CXR with add-on targeted investigations were compared using Cochran's q and McNemar tests., Results: One hundred and fifty-nine PCD patients were included, median age at PCD diagnosis of 6.1 years (range: 0-28). The situs classification differed significantly from CXR images alone versus CXR with add-on targeted investigations (p < 0.001); SS 88 (55%) versus 75 (47%), SIT 59 (37%) versus 46 (29%), and SA 12 (8%) versus 38 (24%). Identified SA defects were cardiovascular (21, 13%), intestinal (9, 6%), and/or splenic (16,10%)., Conclusions: In PCD patients, clinically significant SA defects may not be detected by CXR alone. Our results suggest that the routine use of CXR with add-on targeted investigations may be justified., (© 2022 Wiley Periodicals LLC.)

Competing Interests: Competing interests: None declared.

Background: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3., Methods: We performed a detailed clinical prenatal sonographic characterization of a foetus with SRTD3. Trio whole-exome sequencing was used to identify causative variants in the family. The identified variants in the families were validated by Sanger sequencing and mass spectrometry. Multiple computational tools were used to predict the harmfulness of the two variants. A minigene splicing assay was carried out to evaluate the impact of the splice-site variant., Results: We evaluated prenatal sonographic images of the foetus with SRTD3, including abnormal rib curvature, narrow thorax, bilateral hypoplastic lungs, bilateral polydactyly, syndactyly, and foetal visceral situs inversus with mirror-image dextrocardia. We revealed novel compound variants of DYNC2H1 (NM&#95;001377.3:c.11483T > G (p.Ile3828Arg) and c.2106 + 3A > T). Various statistical methods predicted that the variants would cause harmful effects on genes or gene products. The minigene assay findings suggested that c.2106 + 3A > T caused the skipping over exon 14, producing an exon 14 loss in the protein., Conclusion: This study identified a foetus with SRTD3 with situs inversus totalis with mirror-image dextrocardia in a Chinese family, revealing two novel compound heterozygous dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) variants, expanding the phenotypic spectrum of SRTD3. The minigene study of c.2106 + 3A > T was predicted to cause an inframe exclusion of exon 14, which was predicted to have important molecular functions. Our findings strongly supported the use of WES in prenatal diagnosis and helped to understand the correlation of genotype and phenotypes of DYNC2H1. The specific sonographic findings and the molecular diagnosis helped add experience to further our expertise in prenatal counselling for SRTD3., (© 2022. The Author(s).)

We report a case of a 2-year-old female presenting with cyanosis since birth and having rare cardiac anatomy of visceral situs inversus, dextrocardia, discordant atrioventricular connections with double outlet right ventricle, atrial communication, subaortic interventricular communication, anteriorly leftward aorta with right aortic arch, single coronary artery with a branch crossing right ventricle outflow tract, pulmonary stenosis, and bilateral superior vena cava. Corrective repair with atrial switch (Senning technique), intracardiac baffle, and right ventricle outflow reconstruction was successfully performed with challenges from altered anatomical location and orientation of the heart and abnormal coronary artery.

An 85-year-old female with situs inversus totalis was admitted due to obstructive jaundice, secondary to multiple choledocholithiasis and distal biliary stenosis due to adenocarcinoma of the head of the pancreas, with duodenal infiltration and metastatic liver disease. An endoscopic retrograde cholangiopancreatography (ERCP) was attempted in the supine position but bile duct cannulation was not possible due to duodenal infiltration. Finally, a palliative biliary stent was placed percutaneously, with resolution of the jaundice.