Situs Inversus Research Articles

Situs Inversus Totalis in a Newborn With Primary Ciliary Dyskinesia.

Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.

Total Anomalous Pulmonary Venous Drainage with Malaligned Atrial Septum: A Case Series and Descriptive Study

Abstract Total anomalous pulmonary venous drainage (TAPVD) is a complex congenital heart anomaly characterized by abnormal venous return from the pulmonary veins. The classification of TAPVD has been a matter of debate, particularly when pulmonary veins open into the anatomically left atrium but functionally into the right atrium due to a malaligned interatrial septum. This case series aimed to assess clinical significance of malalignment of interatrial septum and to differentiate between TAPVD and total anomalous pulmonary venous connection (TAPVC) by echocardiography before sending the patient for surgery. This retrospective case series involved seven patients diagnosed as TAPVD between 2011 and 2023. The age of the patients ranged from 1 month to 3 years, mostly presenting within the first few months of life. One case was diagnosed during fetal echocardiography. The commonest complaints were failure to thrive, fast breathing and recurrent chest infection. All cases were diagnosed by echocardiography and confirmed during surgery. 5 patients had situs solitus, 1 had situs inversus and one had left isomerism. In all cases, surgical repair was done which included excision of malaligned interatrial septum and closing the interatrial defect with dacron patch, thus directing the flow of the pulmonary vein to the left atrium. In summary, TAPVD with malaligned interatrial septum and TAPVC are two completely different entities and must be differentiated before sending the patient for surgical repair. The normal anatomical connection of pulmonary veins to left atrium is preserved in TAPVD.

Small bowel obstruction in ruptured male pelvic dermoid with situs inversus totalis: a singular case presentation

BackgroundPelvic dermoid cysts are extremely rare in males, with an even rare occurrence of rupture. Only a handful of cases of male pelvic dermoid cysts have been published with no reported case of ruptured male pelvic dermoid causing small bowel obstruction to the best of our knowledge.Case presentationHerein we report a case of ruptured pelvic dermoid presenting with intestinal obstruction in an adult male patient with situs inversus totalis.ConclusionPelvic dermoid cyst should be considered even in males the presence of classical radiological signs. Knowledge of usual and unusual imaging signs as well as the associated life-threatening complications of a ruptured dermoid cyst can help in prompt diagnosis and timely patient management.

ERCP extraction of stones in situs inversus patients; state-of-the-art techniques

ERCP extraction of stones in situs inversus patients; state-of-the-art techniques

Generalized peritonitis of appendicular origin with intraoperative finding of situs inversus abdominalis

El situs inversus es una enfermedad congénita muy rara que afecta a una de cada 10 000 personas. La revelación desitus inversuspor un síndrome peritoneal es un evento extremadamente raro. Los pacientes con situs inversus tienen una incidencia de 0,016-0,024 % de sufrir apendicitis aguda y generalmente se presentan con alguna complicación. Se presenta el caso de una paciente con peritonitis generalizada de origen apendicular con hallazgo intraoperatorio casual de situs inversus abdominalis.

Laparoscopic sleeve gastrectomy in a young female with Guillain-Barré syndrome and situs inversus totalis: a case report

Laparoscopic sleeve gastrectomy (LSG) has emerged as a prominent bariatric surgery (BS) procedure due to its efficacy in weight reduction and improvement of associated co-morbidities. Although BS can be an underlying cause of Guillain-Barré syndrome (GBS), it's influence on those with a history of GBS remains uncertain. GBS is a rare autoimmune disorder characterized by symmetrical muscle weakness, and its coexistence with situs inversus totalis (SIT), a congenital condition involving mirrored organ placement, poses unique surgical challenges. We present a case of a 24-year-old female with a history of GBS and SIT seeking LSG for obesity management. Preoperative assessment involved multidisciplinary collaboration, and surgical adaptation was necessary due to anatomical anomalies. Trocar placement mirrored organ positions, facilitating successful surgery. Postoperative recovery was uneventful. At the one-year follow-up, she had a discernible improvement in the weakness that she expressed in her lower limbs. Obesity exacerbates GBS-related complications, necessitating careful consideration of surgical interventions. SIT presents technical challenges during laparoscopic procedures, demanding surgical expertise. Multidisciplinary assessment and surgical adaptation are crucial for optimizing outcomes. This case demonstrates the successful management of obesity in a patient with GBS and SIT through LSG, highlighting the importance of a comprehensive approach and surgical adaptation. LSG proves effective in promoting weight loss and improving mobility in such complex cases. Continued documentation of unique cases is essential for guiding future interventions in this challenging patient population.

Situs inversus totalis with esophageal cancer: a case report

Situs inversus is a rare disorder and its association with esophageal cancer is seldom encountered in clinical practice. Its incidence is 1/8000 to 1/25000 live births. Only 12 cases have been reported in the literature so far. Here, we report a case of esophageal cancer with situs inversus totalis, which was successfully managed by esophago-gastrectomy via a high right thoracoabdominal approach and review the relevant literature. Although the surgery was technically challenging due anatomic reversal of organs, it did not differ from the routine surgery. Moreover, it was observed that with careful recognition of mirror image anatomy preoperatively and during surgery, complications can be avoided.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.Case PresentationThe male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.Discussion and conclusionsOur findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

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

Situsinversus 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 situsinversus 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 situsinversus 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 6months. There was no recurrence 15months postoperatively. Appropriate imaging studies and an understanding of unusual anatomy make surgery safe and provide suitable treatment for patients with situsinversus totalis.

Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.

We aimed to examine the correlation between clinical characteristics and the pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD). 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. We enrolled 74 patients with a median age of 25.58years. 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 4.71years, 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. 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.

Clinical implications of dextrocardia based on four visceroatrial situs studies

BackgroundPrevious studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs. MethodsWe retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs. ResultsDextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage. ConclusionOur study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.

(1211) - A Patient with Dextrocardia, Situs Inversus Totalis, and Congenitally Corrected Transposition of the Great Arteries Receives a VAD Using a Minimally Invasive Approach

(1211) - A Patient with Dextrocardia, Situs Inversus Totalis, and Congenitally Corrected Transposition of the Great Arteries Receives a VAD Using a Minimally Invasive Approach

Laparoscopic Colecystectomy in a Patient with Situs Inversus Totalis

Situs inversus totalis (SIT) is a rare clinical condition with autosomal recessive inheritance in which visceral organs are replaced as a mirror image. In this paper, we present the case of a 44-year-old female with SIT who underwent laparoscopic cholecystectomy (LC) due to multiple attacks of cholecystitis and gallbladder stones. Since the patient had SIT, the operation was performed by modifying the placement of the operating team and the operating table. No adverse events were encountered during the operation. The patient was discharged the next day without any complications in the postoperative clinic follow-ups. Due to organ displacement, LC in individuals with SIT is susceptible to complications. These operations should be performed with the utmost care by surgeons with sufficient experience.

Primary ciliary dyskinesia (Kartagener syndrome): a case of late diagnosis and follow-up

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease that develops as a result of an ultrastructural defect of the cilia and flagella. The symptoms are non-specific, especially in childhood, and are characterized by recurrent rhinitis and bronchitis, often with obstruction. Half of the patients with PCD are diagnosed with such clear clinical manifestation as Kartagener’s syndrome (chronic bronchitis, chronic sinusitis, reverse position of internal organs (situs inversus), but even in these cases the diagnosis can be difficult.The aim of this paper was to demonstrate a clinical case of late diagnosis of PCD in a child with classic Kartagener syndrome and concomitant atopy, and the results of 11 years of follow-up and microbiological monitoring. The stages of the diagnostic search are presented in detail and typical errors on the way to diagnosis are analyzed.Conclusion. This clinical observation demonstrates the difficulties of diagnosing PCD in a patient with concomitant atopy. It is noted that appropriate continued monitoring and timely therapy are crucial for children with PCD. The need to standardize approaches to the diagnosis and management of patients with PCD, including continuity during transfer to the adult healthcare network, is emphasized.

A Rare Case: Stenosis Doudeni Congenital et Causa Ladd Band Eet Causa Malrotation with Situs Inversus in 12 Days Old Baby

We are sharing a rare presentation of congenital duodenal obstruction with combined intrinsic and extrinsic causes with situs inversus, namely, duodenal stenosis with gastrointestinal malrotation in a neonate. The patient underwent successful exploratory laparotomy, Ladd's procedure, and appendicectomy were carried out. Early recognition of signs and symptoms, prompt corrective surgery, and adequate optimization of metabolic components post-operatively are important to determine the decreased morbidity and mortality of neonates.

Navigating endoscopic challenges in situs inversus totalis: strategies for optimal procedure completion and patient safety

Flexible endoscopy is a gold standard diagnostic test for the evaluation of the gastrointestinal tract and an accessible intervention in clinical practice. Completion rates are generally high while perforation rates are low in experienced hands. Situs inversus totalis (SIT) is a rare congenital abnormality that involves the complete transposition of all the viscera. In less-experienced hands, incompletion and perforation rates may increase in patients with SIT due to unfamiliarity with anatomy. The purpose of this case report is to present methods such as reverse manoeuvres to assist in the safe completion of an endoscopy in SIT when technical difficulties arise. Using a case of a patient in a rural hospital who presented for a colonoscopy who had SIT, we discuss the use of adjuncts, variations in segment specific manoeuvres, traditional positioning and abdominal pressure points in-order to perform a safe and successful endoscopy in a patient with SIT.

Correlation between COVID-19 infection and fetal situs inversus.

Situs inversus is a rare congenital condition, defined by the mirror-image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID-19 pandemic. To investigate the association between maternal COVID-19 infection and fetal situs inversus occurrence risk. All pregnant women who underwent fetal ultrasound examinations at Jinan Maternal and Child Health Hospital from January to May of 2022 and 2023 were recruited. A chi-square test was conducted to assess the association of maternal COVID-19 infection with the incidence rate of fetal situs inversus. A total of 8381 patients, including 25 with situs inversus fetuses were recruited. A total of 3956 patients had COVID-19, while 4400 did not. Among 25 mothers with situs inversus fetuses, 22 had COVID-19 and 3 without recent infection. Our analysis showed a strong link between COVID-19 and a higher risk of fetus situs inversus (P < .001, odds ratio 8.196). Maternal COVID-19 infection in the early stages of the pregnancy is associated with an increased risk of fetal situs inversion occurrence. Therefore, further research in this field seems necessary.

Clinical application of laparoscopic spleen-preserving distal pancreatectomy in patients with situs inversus totalis.

Clinical application of laparoscopic spleen-preserving distal pancreatectomy in patients with situs inversus totalis.

Gallbladder sinistroposition (left-sided) finding in laparoscopic cholecystectomy, a case report

A left-sided gallbladder (LSGB), also known as sinistropostition, is a rare anatomical variant with a reported incidence of 0.2-1.1%. It is defined as a gallbladder located on the left side of the falciform ligament, embedded in the third hepatic lobe, without situs inversus viscerum. A 37-year-old Latino man with a history of bilateral inguinal repair underwent a scheduled laparoscopic cholecystectomy due to multiple gallbladder polyps. Preoperative ultrasound reported a gallbladder of 60x20 mm, wall thickness of 1 mm, with polyps of up to 10 mm. Standard laparoscopic cholecystectomy trocar placement was used. Upon revision of the right hepatic lobe, there was an absence of the GB in the visceral side of segments IV, V, or VI. It was identified to the left of the falciform ligament with adhesions to the anterior and superior portions of the pylorus and lesser curvature. The subxiphoid trocar was adjusted to the left of the falciform ligament, and Calot’s triangle dissection was performed to obtain a critical view of safety. No other anatomical variants were identified. The procedure was performed safely with a satisfactory view of critical cholecystectomy steps and anatomy identification. After the procedure, the surgeon complained of right-hand pain and numbness due to a medial position of the subxiphoid trocar for dissection. The surgical approach of a LSGB in laparoscopic surgery should be individualized for each patient. A minimally invasive approach may be realized successfully when critical thinking by the surgeon is applied and always prioritizing the safety of the patient.

Situs viscerum inversus and abdominal aortic aneurysm: A systematic review of a rare association.

Situs viscerum inversus (SVI) is a very rare condition in that abdominal and thoracic organs are located reversed. Abdominal aortic aneurysm (AAA) is a life-threatening pathology due to progressive aortic enlargement until the rupture. The association between SVI and AAA is very infrequent. The aim of this study is to identify the surgical procedures available to treat AAA in SVI. We performed a literature review of all studies about AAA in SVI patients, analyzing PubMed/MEDLINE, EMBASE, Web of Science (WOS), Google Scholar databases. The survey includes all publications until June 2023. The outcomes include demographic findings, type of surgical procedure, intraoperative and postoperative complications, follow-up. A total of 12 studies, including 12 patients, were considered eligible for the review. AAA mean size was 70.5 mm (range: 55-90 mm); the most common localization was in the infrarenal aortic portion. 6 studies reported data on elective surgery, and 6 on emergency procedures. In one case endovascular treatment was performed. No intraoperative complications are reported; 3 postoperative complications are registered. Medium follow-up period was 13.5 months (range: 3-60). According to the available literature, the treatment of AAA in SVI is feasible and does not show an incremented morbidity compared to patients with a normal visceral configuration. This treatment seems to be effective also in case of endovascular treatment. AAA treatment in SVI should be performed (especially in elective settings) in high volume centers where it is possible to bring on collaboration across different surgical specialists.