Situs Inversus Research Articles

PE37 - Robotic partial nephroureterectomy for T1b renal cell carcinoma with complete situs inversus totalis with pre- and intraoperative preoperative three-dimensional virtual imaging

PE37 - Robotic partial nephroureterectomy for T1b renal cell carcinoma with complete situs inversus totalis with pre- and intraoperative preoperative three-dimensional virtual imaging

Incomplete Situs Inversus Associated with Common Mesentery and Splenic Duplicity: About A Case and Literature Review

Situs inversus is a rare congenital malformation characterized by the inverted position of the thoracic and abdominal organs relative to the sagittal plane. It can be complete or incomplete. We report an incomplete case of situs inversus associated with a common mesentery and splenic duplicity, revealed by acute generalized peritonitis by ileal perforation of typhic origin.

Laparoscopic distal gastrectomy for advanced gastric cancer with situs inversus totalis: a case report.

BackgroundSitus inversus totalis (SIT) is a relatively rare condition, in which the thoracic and abdominal organs are reversed or mirrored from their normal positions. Here, we reported a case of a patient with SIT and advanced gastric cancer with lymph node metastasis who underwent laparoscopic distal gastrectomy (LDG).Case presentationA 67-year-old man with SIT was clinically diagnosed with T3N2M0 advanced gastric cancer located in the middle gastric body. Three-dimensional reconstruction of computed tomography angiogram revealed that the common hepatic artery originated from the superior mesenteric artery. The patient underwent LDG with D2 lymph node dissection and Roux-en-Y reconstruction. The postoperative course was uneventful.ConclusionThis case report showed that LDG could be safely performed on a patient even under complex conditions, such as advanced gastric cancer with lymph node metastasis with SIT and vascular anomalies.

AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.

Cowden syndrome (CS) is a rare autosomal dominant disorder associated with multiple hamartomatous and neoplastic lesions in various organs. Most CS patients have been found to have germline mutations in the PTEN tumor suppressor. In the present study, we investigated the causative gene of CS in a family of PTEN (phosphatase and tensin homolog deleted on chromosome 10) -negative CS patients. Whole exome sequencing analysis revealed AMBRA1 (Autophagy and Beclin 1 Regulator 1) as a novel candidate gene harboring two germline variants: p.Gln30Arg (Q30R) and p.Arg1195Ser (R1195S). AMBRA1 is a key regulator of the autophagy signaling network and a tumor suppressor. To functionally validate the role of AMBRA1 in the clinical manifestations of CS, we generated AMBRA1 depletion and Q30R mutation in hTERT-RPE1 (humanTelomerase Reverse Transcriptase-immortalized Retinal Pigmented Epithelial cells) using the CRISPR-Cas9 gene editing system. We observed that both AMBRA1-depleted and mutant cells showed accumulation in the S phase, leading to hyperproliferation, which is a characteristic of hamartomatous lesions. Specifically, the AMBRA1 Q30R mutation disturbed the G1/S transition of cells, leading to continuous mitotic entry of mutant cells, irrespective of the extracellular condition. From our analysis of primary ciliogenesis in these cells, we speculated that the mitotic entry of AMBRA1 Q30R mutants could be due to non-functional primary cilia that lead to impaired processing of extracellular sensory signals. Additionally, we observed a situs inversus phenotype in ambra1-depleted zebrafish, a developmental abnormality resulting from dysregulated primary ciliogenesis. Taken together, we established that the AMBRA1 Q30R mutation that we observed in CS patients might play an important role in inducing the hyperproliferative potential of cells through regulating primary ciliogenesis.

Kartagener Syndrome with Pan Atopic Airway Disease

Kartagener syndrome (KS) is a rare type of primary ciliary dyskinesia, which comprises a triad of chronic sinusitis, situs inversus, and bronchiectasis. It has a heterogeneous inheritance, mainly inherited as an autosomal recessive disorder, causing functional defect in ciliary movement. Bronchial asthma (BA) is a disease where there is a chronic inflammation of airways along with hyperreactive airways with variable airflow obstruction. We are reporting a case of a 36-year-old man with chronic sinusitis, situs inversus totalis, bronchiectasis, and well-controlled asthma. This case report orients toward the fact that KS can present with BA which makes this case idiosyncratic. Moreover, the veracious takeaway lesson is that early diagnosis will improve the quality of life of the patients and reduce the complexities of the disease, thus will bring down the morbidity and mortality of the patients.

ERCP and EUS technique in situs inversus totalis: preparing for a left-sided plot twist

Video.

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing.

Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints and conduct a prenatal diagnosis, we performed whole-genome sequencing (WGS) in 21 subjects who were found BCAs, 19 balanced chromosome translocations and two inversions, in prenatal screening. In 16 BCAs on non-N-masked regions (non-NMRs), WGS detected 13 (81.2%, 13/16) BCAs, including all the inversions. All the breakpoints of 12 (12/14) cases of sufficient DNA were confirmed by Sanger sequencing. In 13 interrupted genes, CACNA1E (in case 12) and STARD7 (in case 17) are known causative and PDCL was found in subject (case 11) with situs inversus for the first time. Case 12 with abnormal ultrasound reached a definitive genetic diagnosis of CACNA1E-disease, while STARD7 exon deletion has never been found causative in patients. WGS provides the possibility of prenatal diagnosis in fetuses with BCAs, and its clinical significance also lies in providing data for postnatal diagnosis.

Robotic-assisted pulmonary lobectomy with lung cancer in a patient with situs inversus totalis

BackgroundSitus inversus totalis (SIT) is a relatively rare congenital abnormality in which the major thoracic and abdominal visceral organs are reversed from their usual positions. In patients with SIT and bronchial carcinoma, surgical difficulty increases sharply. It has been reported that the video-assisted thoracic surgery (VATS) still poses the operator to a challenge situation. The similarity of surgical positions and the flexibility of the mechanical arm in robotic surgery, may be beneficial to SIT patients due to reducing technical difficulties. Here, we present a first case of SIT patient with lung cancer, in which Da Vinci robot-assisted thoracic surgery (RATS) was performed successfully.Case presentationA 66-year old patient, previously diagnosed with SIT since childhood, came to our hospital with two pulmonary nodules in his left lung field. The bigger one had increased somewhat for the last 2 years of follow-up. Software Mimics was preoperatively carried out to analyze anatomical variations. RATS was conducted to complete left upper lobectomy and left middle wedge resection. The patient had no intraoperative complications and was discharged day 5 after the operation.ConclusionsThis is the first report of a successful robot-assisted lung cancer resection in a patient with SIT. In such challenging cases as lung cancer and rare anomaly as SIT, RATS is more advantageous and suitable than VATS with the help of software Mimics utilized for 3D reconstruction, which can identify the anatomical abnormalities and facilitate the surgical procedures.

312.7: Liver Transplantation in a Complex Recipient Anatomy.

A 22-year-old man with situs inversus totalis and end-stage liver disease secondary to congenital biliary atresia and previous Kasai portoenterostomy at two months who was referred to our center with portal hypertensive bleeding, recurrent cholangitis, and hepatocellular carcinoma. He completed the liver transplant protocol. Preoperative liver angiotomography revealed, besides the mirror image orientation of the viscera and dextrocardia, inferior vena cava (IVC) and portal vein (PV) with good patency, splenorenal shunt, collateral circulation, and common hepatic artery arising from the superior mesenteric artery. A suitable 59-year-old cadaveric male donor with no anatomic variation was accepted. He underwent to liver transplant, his BMI was 16.7kg/m2, MELD and Child-Pugh scores were 24 and 7 points. The donor’s liver weighed 1725g.A bilateral subcostal incision was made; after extensive lysis of adhesions, the hepatectomy was performed with preservation of the recipient’ s IVC. The donor’s liver was placed on the left side rotated 90° clockwis; this allowed perfect alignment of the recipient and dolor hila. The donor infrahepatic vena cava was anastomosed end-to-side to recipient IVC previous closing of the suprahepatic vena cava. The artery and PV were anastomosed end-to-end without vessel grafts. A choledocojejunostomy was performed using the previous Roux-en-Y. The patient had satisfactory evolution and was discharged on the 8th postoperative day with normal liver function.

Interventional treatment of basilar trunk artery aneurysms associated with situs inversus totalis: A case report

Basilar trunk artery aneurysm (BTAA) has an overall low incidence in intracranial aneurysm, but its rupture is associated with high morbidity and mortality in older people. Situs inversus totalis (SIT) is a rare congenital abnormality characterized by visceral rotation and vascular abnormalities. It has been described in several uncommonly clinical cases, along with middle cerebral artery aneurysms and large carotid cavernous aneurysms. However, the association between interventional embolization for BTAA and SIT has not been reported. We described the angiography findings and interventional treatment of the association of BTAA with SIT.

Redo aortic valve surgery in a case of dextrocardia with situs inversus totalis

IntroductionDextrocardia is a rare congenital cardiac anomaly where the base-apex axis of the heart is directed to the right side. It may be associated with situs solitus, situs inversus, or situs ambiguous. Such cases are technically challenging when heart surgery is needed.Presentation of caseWe presented a case of a patient with dextrocardia and situs inversus totalis, who had severe aortic bioprosthetic valve degeneration needing a redo aortic valve replacement. Our operative strategy was to change the position of the main surgeon to the left side of the patient to perform most surgical steps.DiscussionA meticulous pre-operative surgical plan involving the whole team was very important for a smooth intra-operative course and a favourable outcome. Regarding the position of the main surgeon standing on the left side of the patient, we believed this surgical team arrangement added much to the technical ease for the procedure, since the anatomy was opposite to what our minds are used to. Also, computed tomography scan played a crucial role for a proper preoperative anatomical evaluation and surgical planning.ConclusionOur approach with the surgeon on the left side provided excellent exposure for redo aortic valve replacement in dextrocardia with situs inversus totalis. This surgical management played an important role for the good result in this technically challenging scenario.

WE2.2 Video Presentation of performing a Laparoscopic Cholecystectomy on a patient diagnosed with Situs Inversus Totalis

Abstract Background Situs inversus totalis (SIT) is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy, occurring in 0.0001% of patients. A thorough understanding of the human anatomy and anatomical variances is crucial in everyday clinical practise and emergency surgical care. We present a video on a patient with SIT who underwent a Laparoscopic Cholecystectomy (LC). Case Our patient is a 40-year-old lady with a known diagnosis of SIT. She presented with jaundice and left upper quadrant pain (LUQ). An ultrasound and CT scan confirmed the diagnosis of gall stones, CBD stones and SIT. She underwent an ERCP to clear CBD stones. LC is one of the commonest general surgical procedures, however, this case proved challenging due to reversed anatomy. Intraoperatively, operating positioning was reversed with mirror imaging of ports used normally. Standard 10mm ports were placed in the infraumbilical and epigastric regions and the remaining ports placed in the LUQ. Abdominal organs were inspected and SIT was confirmed. It was ensured that a slow, meticulous delineation of Calot's triangle and window of safety was performed. The cystic duct and artery were clipped. The rest of the procedure was uneventful. Results The patient was discharged on the same day as the procedure. There were no immediate or short-term complications. Gallbladder histology showed chronic cholecystitis, cholelithiasis and cholesterolosis. Conclusion This case demonstrates that with appropriate planning and an advanced skill set, a LC can be performed in a patient with SIT, with little or no complications.

DILATATION DES BRONCHES REVELANT UN SYNDROME DE KARTAGENER : A PROPOS DUN CAS ET REVUE DE LA LITTERATURE

Primary ciliary dyskinesias (PCD) are rare genetic diseases with autosomal recessive transmission, affecting nearly 1/15000 births, due to a structural/functional defect of cilia. Kartagener syndrome (KS) represents 50% of PCDs and is characterised by the triad of bronchiectasis, chronic sinusitis and situs inversus. It is manifested by clinical signs of upper and lower respiratory infections or infertility. Situs inversus is often discovered incidentally. The diagnosis is confirmed by specialized centers and is based on analysis of ciliary ultrastructure by electron microscopy or ciliary beats by light microscopy/high speed video microscopy , measurement of nasal nitric oxide flow and genetic tests. Treatment is supportive and in line with recommendations for the management of cystic fibrosis or idiopathic adult bronchiectasies. It includes respiratory physiotherapy, antibiotic medication to treat infections, vaccinations and local treatment of the otorhinolaryngeal tract if necessary. We present here the case of a 23-year-old woman with a history of recurrent respiratory infections since her early age, who consulted for cough, chronic bronchorrhea and dyspnea. The evolution to respiratory failure is slowed by the early diagnosis and management of exacerbations.

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

BackgroundMonochorionic dizygotic twins are a rare condition, mostly related to assisted reproductive technology. This type of twinning is burdened by the same risk of pregnancy complications found in monochorionic monozygotic pregnancies.Case presentationWe report a case of spontaneous monochorionic dizygotic twins sharing situs inversus abdominalis and isolated levocardia, with only one twin affected by biliary atresia with splenic malformation syndrome. We also conducted a literature review of the 14 available documented monochorionic dizygotic twin gestations spontaneously conceived.ConclusionsIt is still unclear how this unusual type of twinning can occur in spontaneous conception. The evidence so far suggest the importance to timely diagnose the chorionicity, in order to adequately manage the typical complications associated with monochorionicity.

Dextrocardia, situs solitus, double–inlet, and double-outlet left ventricle – A case report

Dextrocardia is embryologic malformation characterized by displacement of the largest axis of the heart to the right side of the chest. Dextrocardia is a rare anomaly that is associated with situs inversus and the incidence in the general population is usually 1:10,000, withsitus solitus being 1:30,000 live births. It is associated with complex cardiac lesions, 5% with situs inversus, and 90% with situs solitus color. Doppler echocardiography not only provides additional information but also improves overall specificity of two-dimensional echocardiography. Few case reports of dextrocardia, double-inlet (DILV), and double-outlet left ventricle (DOLV) with situs inversus have been diagnosed and reported by echocardiography, but none are available with situs solitus. To the best of our knowledge, we are presenting the first case report of dextrocardia, situs solitus, double-inlet with DILV, DOLV, and D-malposition of great arteries with pulmonary stenosis, detected by color Doppler echocardiography.

Sleeve gastrectomy in a patient with situs inversus: a case report

Situs inversus (SI) is a very rare congenital disease affecting one in 10 000 people. It is characterized by a mirror image transposition of both abdominal and thoracic organs. Diagnosis of SI is usually made incidentally while investigating for unrelated medical problem. It can be associated with cardiac and respiratory anomalies that may cause perioperative morbidity if not diagnosed before surgery. There are limited case reports in literature of SI patients that underwent bariatric procedures. We report a case of a 32-year-old female with SI partialis and levocardia who successfully underwent laparoscopic sleeve gastrectomy. We concluded that sleeve gastrectomy is safe in patients with SI if diagnosed preoperatively and if all the necessary precautions are taken into consideration before and during the surgery.

Left sided Amyand hernia - A case report.

IntroductionAmyand hernia is a clinical condition wherein content of the inguinal hernial sac is formed by the vermiform appendix.Case presentation1 year 3-month-old male child presented to our OPD with an irreducible left inguinal hernia for which he was taken up for an emergency herniotomy. The terminal ileum, caecum and appendix were found to be the contents of the hernial sac.DiscussionAs the appendix is anatomically located on the right, Amyand hernia more commonly occurs on the right, however its occurrence on the left, is a rare event and is usually associated with congenital anomalies like Intestinal malrotation, Situs inversus and mobile caecum.ConclusionAmyand hernia presenting on the left is extremely rare and high index of clinical suspicion is required to manage such patients. We report one such rare case of a Left sided Amyand hernia in a young child.

Kartagener Syndrome: A Case Report

Kartagener syndrome (KS) is a rare autosomal recessive disorder characterized by a clinical triad of situs inversus, chronic sinusitis, and bronchiectasis. Impaired ciliary motility due to abnormal ciliary structure or function is the main pathophysiological problem in KS. A 38-year-old woman presented to our outpatient clinic with a productive cough, fever, and shortness of breath for 1 month. She has had recurrent episodes of respiratory tract infections since childhood. Clinical investigations revealed situs inversus, sinusitis, and bronchiectasis. She was diagnosed with KS and treated with antibiotics, mucolytics, bronchodilators, and chest physiotherapy. Patients with KS present with chronic recurrent respiratory tract infections due to ineffective mucociliary clearance. Early diagnosis is important to improve prognosis. The main goals in the management of KS are to prevent the progression of the disease, preserve pulmonary function, and improve quality of life.

An Unusual Case of Perforated Appendicitis in Situs Inversus Totalis in Indonesia

Situs inversus is a rare congenital anomaly where the internal organs are transposed in a mirror image. It is commonly unrecognized until a patient comes with a complaint, especially in developing countries where people do not have a routine medical checkup. We report a case of a young female with unusual left lower quadrant pain abdominal pain. Perforated appendicitis leading to peritonitis was confirmed using ultrasonography and successfully treated with laparotomy. Appendicitis should be considered a working diagnosis in lower left quadrant abdominal pain

A Young Bangladeshi Boy with Primary Ciliary Dyskinesia (Kartagener’s Syndrome): A Rare Case

Kartagener’s syndrome, an autosomal recessive inherited disorder, is a subgroup of primary ciliary dyskinesias (PCD). This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. A 16 year-old boy from Fulbaria, Mymensingh with left sided consolidation for 1 month and recurrent episodes of nasal congestion and lower respiratory tract infection (LRTI) since his childhood. Clinical and imaging findings revealed left sided consolidation, chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, bronchodilators, mucolytics, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. As there is no easy, reliable non-invasive diagnostic test for Kartagener’s syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener’s syndrome is diagnosed.
 CBMJ 2022 January: vol. 11 no. 01 P: 56-60