Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

To evaluate the genetic etiology of fetal dextrocardia, associated ultrasound anomalies, and perinatal outcomes, we investigated the utility of whole exome sequencing (WES) for prenatal diagnosis of dextrocardia. Fetuses with dextrocardia were prospectively collected between January 2016 and December 2022. Trio-WES was performed on fetuses with dextrocardia, following normal karyotyping and/or chromosomal microarray analysis (CMA) results. A total of 29 fetuses with dextrocardia were collected, including 27 (93.1%) diagnosed with situs inversus totalis and 2 (6.9%) with situs inversus partialis. Cardiac malformations were present in nine cases, extra-cardiac anomalies were found in seven cases, and both cardiac and extra-cardiac malformations were identified in one case. The fetal karyotypes and CMA results of 29 cases were normal. Of the 29 cases with dextrocardia, 15 underwent WES, and the other 14 cases refused. Of the 15 cases that underwent WES, clinically relevant variants were identified in 5/15 (33.3%) cases, including the diagnostic variants DNAH5, DNAH11, LRRC56, PEX10, and ZIC3, which were verified by Sanger sequencing. Of the 10 cases with non-diagnostic results via WES, eight (80%) chose to continue the pregnancies. Of the 29 fetuses with dextrocardia, 10 were terminated during pregnancy, and 19 were live born. Fetal dextrocardia is often accompanied by cardiac and extra-cardiac anomalies, and fetal dextrocardia accompanied by situs inversus is associated with a high risk of primary ciliary dyskinesia. Trio-WES is recommended following normal karyotyping and CMA results because it can improve the diagnostic utility of genetic variants of fetal dextrocardia, accurately predict fetal prognosis, and guide perinatal management and the reproductive decisions of affected families.

Laparoscopic cholecystectomy in situs inversus totalis-surgical technique and procedure safety using anatomical checkpoints.

Situs inversus totalis (SIT) is a rare congenital condition in which there is complete transposition of both the thoracic and abdominal viscera. Given how infrequently this abnormality is encountered, operating on patients with SIT can be technically difficult and challenging for the surgeon. This case report outlines the steps used to successfully carry out a laparoscopic cholecystectomy on a patient with SIT. The aim of this report is to highlight the technical difficulties encountered during this common surgical procedure. By sharing our operative experience, we hope to assist operating surgeons in their perioperative planning when faced with a similar case. Our approach to port placement, dissection of Calot's triangle, and achieving adequate tissue tension is discussed. Ultimately, we believe that advanced planning, anticipation of likely challenges, and knowledge of strategies to overcome these can only be beneficial to the safety of performing laparoscopic cholecystectomy in a patient with SIT.

Laparoscopic Sleeve Gastrectomy in Situs Inversus Totalis: A Case Report.

Obesity prevalence is increasing with the modern lifestyle. Bariatric surgery is an excellent method to sustain weight reduction and the most commonly performed surgery is laparoscopic sleeve gastrectomy (LSG). The laparoscopic approach can be challenged in certain conditions such as situs inversus totalis (SIT). We report a 38-year-old gentleman with class II obesity known to have SIT. After complete preoperative preparation, we performed LSG with no complications. The main difficulty of performing any surgical procedure for SIT patients is the reversed anatomy. It is essential to highlight the importance of anatomy for surgeons. Proper preoperative anatomy assessment along with the surgeon's experience is the key element to perform LSG or any bariatric laparoscopic procedure in rare conditions such as SIT.

Laparoscopic cholecystectomy and laparoscopic common bile duct exploration for cholecystolithiasis and choledocholithiasis in a patient with situs inversus totalis: A case report.

Situs inversus complicates diagnosis and treatment due to the mirrored organ placement in relation to normal anatomy. This report describes a 78-year-old female patient with situs inversus totalis who underwent laparoscopic cholecystectomy and laparoscopic common bile duct exploration for cholecystolithiasis and choledocholithiasis. Utilizing the "French mirror technique" for port placement, the surgeon adeptly mirrored standard maneuvers with a 2-mm needle forceps in the left hand and a 5-mm forceps in the right in a reversed anatomical setting. This technique maintained familiar hand movements, despite the patient's unique anatomy. The surgeon applied transcystic ductal bile duct exploration, using choledochoscopy for duct exploration and a basket catheter for stone removal. Laparoscopic cholecystectomy and common bile duct exploration through the transcystic ductal route are viable and effective for patients with situs inversus.

Acute Cholecystitis in a Patient With Situs Inversus.

A rare disorder called situs inversus partialis (SIP) is characterized by the transposition of organs in the abdomen or thoracic cavity from one side of the body to the other (the mirror image of normal). Autosomal dominant, autosomal recessive, rare genetic mutations, and X-linked recessive inheritance patterns have been identified to be involved in this condition. Laparoscopic cholecystectomies have been successfully performed on patients with SIT. Due to challenges in spatial orientation and the identification of anatomical variations brought on by the abdominal organs' mirror image, surgery is more complicated and takes longer. We describe a 40-year-old female case who had acute cholecystitis. Laparoscopic cholecystectomy was used to treat this patient, a highly effective procedure for both the treatment and care of these patients. Post-surgical examination and follow-up revealed improvement in the patient's condition without subsequent complications.

Adaptability in the Midst of Anatomical Challenges: A Case of Situs Inversus Totalis in Laparoscopic Cholecystectomy.

Situs inversus totalis (SIT) is a rare and nonfatal congenital anomaly where there is a complete inversion of a patient's visceral organs. Throughout the patient's lifetime, they will encounter various challenges due to their unique anatomic variation. In this case, we report the treatment of symptomatic cholelithiasis in a 33-year-old female with comorbid SIT who underwent a laparoscopic cholecystectomy without postoperative complications. Despite the added layer of complexity in her presentation, we were able to perform the cholecystectomy laparoscopically with slight modifications to better accommodate her anatomical mirroring. Modifications made in the form of bed positioning, trochar placement, and surgical team positioning prove that strategic operative planning is essential to optimizing outcomes for this unique patient population.

Brain (Yakovlevian) torque direction is associated with volume asymmetry of the intracranial transverse sinuses: evidence from situs inversus totalis.

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.

A case report and anesthetic implications of situs inversus totalis in video-assisted thoracoscopic pulmonary resection.

Introduction and importance: Reports are limited on video-assisted thoracoscopic surgery for lung malignancy of patients with situs inversus totalis (SIT). Patients with SIT have significant anatomic differences with implications that are important for surgery, anesthesia, and nursing to understand in order to provide care for this patient population. Case presentation: A 64-year-old man with SIT and lung adenocarcinoma needed flexible bronchoscopy and wedge resection of a 9×8 mm adenocarcinoma in the right upper lobe and underwent video-assisted thoracoscopic surgery. Clinical discussion: Preoperative planning, including collaboration with the surgical team, allowed safe monitoring, induction of anesthesia, and airway isolation in this patient allowing them to have successful resection of their pulmonary malignancy. Postoperative care was enhanced by detailed communication and understanding of the patient's anatomy and implications of this condition for post anesthesia care unit nursing care. Conclusion: Patients with rare clinical conditions and backgrounds may require surgical and anesthetic intervention. The authors describe important anesthetic considerations of preoperative evaluation, airway management, cardiac monitoring, and vascular access that should be noted and taken into account for patients with SIT. Proper preparation, planning, and communication allow for patients with SIT to safely undergo surgical procedures.

Laparoendoscopic Single-Site Surgery (LESS) for Right Donor Nephrectomy in a Patient With Situs Inverses Totalis: A Novel Approach for Such a Case.

Situs inversus totalis (SIT) is a rare congenital condition where the organs of the thorax and abdomen are arranged in a mirror image reversal of their normal position. Patients with SIT present unique challenges in surgical procedures, particularly in laparoscopic surgeries, due to the need to reverse the operator's perspective, technical difficulty in handling the instruments, anatomical variations, and an increased risk of intraoperative complications. In this case report, we present the first case in the English literature of a 49-year-old Arabic male patient with SIT who underwent a successful right laparoendoscopic single-site surgery donor nephrectomy. We described the surgical technique used and highlighted the key challenges faced and overcome during the procedure.

Reversed-Image Mechanical Thrombectomy for Acute Ischemic Stroke in a Situs Inversus Totalis Patient.

An 85-year-old female with situs inversus totalis presented with right hemiplegia, right facial nerve palsy, eye deviation to the left, and aphasia. Magnetic resonance imaging revealed acute ischemic lesions in the left insular cortex and the frontal lobe. Magnetic resonance angiography revealed an occlusion of the left internal carotid artery. Reversed-image mechanical thrombectomy achieved complete reperfusion in three passes within 54 minutes. Six months post-intervention, the patient could walk indoors independently. Our technique, which replicates the normal arterial anatomy by inversion and angulation, was adapted to situs inversus totalis.

Kartagener's syndrome: A rare condition diagnosed in a young male patient.

Kartagener's Syndrome is a rare autosomal recessive genetic condition, that affects the structure and function of cilia and includes a condition of situs inversus, chronic sinusitis, and bronchiectasis associated sometimes with infertility. A young patient who had a long-time fever, cough, and infertility after a clinical evaluation performed a chest X-ray and a CT scan that revealed the unexpected condition of Situs Inversus Totalis (SIT). Imaging also showed bronchiectasis and sinusitis: all findings consistent with Kartagener's syndrome, confirmed a second time by the genetic test. This case highlights the importance of knowing and considering situs inversus in clinical practice, particularly when interpreting imaging studies and planning medical interventions. Furthermore, as situs inversus may be associated with cardiovascular and pulmonary pathologies in several syndromic conditions, such as Kartagener's syndrome in this case, these conditions should always be carefully examined.

Be prepared for the unexpected: Mind-stretching in ST-elevation myocardial infarction with situs inversus totalis.

Situs inversus totalis is a rare diagnosis, but the likelihood of experiencing myocardial infarction is presumed to be comparable to the general population average. In individuals exhibiting situs inversus with suspected myocardial infarction, ECG recording, including right precordial leads, is crucial for diagnostic assessment. Coronary angiography and intervention should be performed with standard equipment using inverted maneuvers and radiographic projections.

A case report of perihilar cholangiocarcinoma in a patient with situs inversus totalis.

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.

Laparoscopic retroperitoneal lymphadenectomy for ovarian mixed germ cell tumor in a patient with situs inversus totalis; reporting the first case worldwide with literature review and in silico analysis.

BACKGROUND: Situs inversus totalis (SIT) is a rare autosomal recessive inheritance at which the abdomino-thoracic organs are mirror-image transposed. Germ cell tumors originate from the primitive germ cell of the ovary and testis. CASE REPORT PRESENTATION: A rare association between malignant ovarian mixed germ cell tumor and SIT was presented in a 32-years-old Egyptian female, successfully treated with laparoscopic total abdominal hysterectomy, right salpingo-oophorectomy, and retroperitoneal lymphadenectomy (laparoscopic retroperitoneal lymphadenectomy) of both sides. This case is considered the first of its kind worldwide. CONCLUSION: SIT may be associated with malignant ovarian germ cell tumors. Surgical intervention could be done laparoscopically.

Case report of pulmonary vein isolation in situs inversus totalis.

Background: Situs inversus totalis (SIT) is a rare condition, where all the organs in the body are mirrored. Atrial fibrillation occurs in patients with SIT. We describe the case of pulmonary vein isolation (PVI) in SIT. Case summary: A patient with atrial fibrillation was referred to our hospital due to palpitations. Diagnosis of atrial fibrillation was made by electrocardiogram. The patient reported to have a SIT that was confirmed. Meticulous preparation was done including a three-dimensional model and radiofrequency PVI was performed successfully. No recurrence of atrial fibrillation was detected until last follow-up 2 years after PVI. Discussion: Pulmonary vein isolation in SIT can be performed successfully and with excellent long-term result.

Usefulness of an intraoperative flipped monitor in laparoscopic surgery with situs inversus totalis: a case report of laparoscopic-assisted ileocecal resection.

BACKGROUND: Situs inversus totalis (SIT) is a rare congenital condition that involves complete transposition (right to left reversal) of the visceral organs. Laparoscopic surgery can be challenging because of the mirror-image anatomy. We describe a surgical innovation in laparoscopic surgery for SIT. CASE PRESENTATION: A 41-year-old man with SIT was diagnosed with an appendiceal tumor and underwent laparoscopic-assisted ileocecal resection. Preoperatively, we evaluated anatomical variations using 3D-computed tomography and simulated mirror images by watching flipped videos of patients with normal anatomy undergoing similar operations. During the operation, port placement and the surgeons' standing positions were reversed. Additionally, two monitors were placed at the patient's head, with one monitor showing original images, and the other showing flipped images that looked the same as the normal anatomy. We checked the range of the mobilized region and important anatomical structures by watching the flipped monitor as needed. The patient's postoperative course was uneventful. CONCLUSIONS: Due to the complexities of laparoscopic surgery for SIT, preoperative preparation and surgical innovation are necessary for safe surgery. Several suggestions have been made to understand anatomical anomalies and improve operability; however, surgeons must focus on the mirror-image anatomy throughout the operation. Therefore, the use of intraoperative flipped monitor will be helpful for surgeons in reducing the risk of anatomical misidentification.

Complete Common Bile Duct Injury after Laparoscopic Cholecystectomy in Situs Inversus Totalis: A Case Report, Review of the Literature and Illustrative Case Video.

INTRODUCTION AND IMPORTANCE: Situs Inversus Totalis (SIT) is a rare condition characterized by the transposition of internal organs. Given the anatomical variations in SIT, surgeons must exercise extreme caution when performing laparoscopic cholecystectomy to avoid iatrogenic bile duct injury. Despite the high difficulty index associated with laparoscopic cholecystectomy in SIT, there is only one case report of common bile duct (CBD) injury in the English-language literature. CASE PRESENTATION: A 41-year-old female patient, known to have Kartagener syndrome, underwent laparoscopic cholecystectomy for acute cholecystitis and was discharged home on post-operative day one. However, on post-operative day five, the patient presented to the emergency room with abdominal pain, fever, and jaundice. Laboratory tests revealed leukocytosis and hyperbilirubinemia. Radiological images revealed complete occlusion of the CBD. A delayed approach was chosen, and six weeks after her initial operation, a hepaticojejunostomy was performed. CLINICAL DISCUSSION: Laparoscopic cholecystectomy is the standard operative procedure for gallbladder disease. The unique anatomy of SIT increases the risk of CBD injury during laparoscopic cholecystectomy. Surgeons are required to perform a mirror-image procedure and adhere to the basic principles of safe laparoscopic cholecystectomy in SIT. This is only the second reported case of CBD injury in SIT patients. CONCLUSION: Laparoscopic cholecystectomy in SIT presents a significant challenge. In patients with SIT, preventing CBD injury is the best approach, and referral to an experienced hepato-pancreato-biliary (HPB) surgeon is recommended. A delayed approach to CBD injuries in SIT allows thorough planning and understanding of the complex anatomical variations in these patients.

Left-sided acute appendicitis in a patient with situs inversus totalis: A case report and a comprehensive review.

AA is a frequent surgical condition that demands urgent intervention. It accounts for approximately 6% of all emergency department visits. Situs inversus is a rare condition in which the orientation of asymmetric organs is a mirror image of normal anatomy. It can be partial (involving either the abdominal or thoracic cavities) or complete (situs inversus totalis: transposition of both abdominal and thoracic organs). SIT is very rare, with an incidence of 1 per 5000 to 10,000 live births. It is inherited in an autosomal recessive pattern with incomplete penetrance. LSAA is very rare and can happen in association with other congenital abnormalities such as situs inversus, midgut malrotation (MM), or a usually long right-sided appendix projecting into the left lower quadrant. SIT is responsible for greater than 67% of left-sided appendicitis cases. Due to atypical clinical presentation, the diagnosis of AA can be difficult and often delayed. Hence, a complete medical history, physical examination, laboratory tests, and imaging tools are necessary to reach a correct diagnosis in a timely manner and prevent complications like abscesses, perforations, and peritonitis. We report a case of a 50-year-old male with symptoms of left lower abdominal pain along with fever, nausea, vomiting, and loose stools that were later diagnosed as LSAA in the setting of SIT.