[Emergent Off-pump Coronary Artery Bypass Grafting in a Patient with Situs Inversus Totalis: Report of a Case].

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.

Clinical Presentation and Therapy of Anomalies of the Situs.

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

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.

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.

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.

Minimally invasive left axillary thoracotomy for the total repair of fallot, dextrocardia, situs inversus and anomalous coronary artery origins.

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.

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.

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

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.

Congenital hemivertebrae combined with situs inversus totalis: A rare case report.

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.

Situs inversus with levocardia in a 15-year-old male adolescent: a case report.

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.

Brain functional segregation, handedness and cognition in situs inversus totalis: A replication study.

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.

Radiofrequency ablation of persistent atrial fibrillation in a patient with situs inversus totalis and interrupted inferior vena cava.

INTRODUCTION: Catheter ablation of atrial fibrillation (AF) has emerged as the most effective therapy. However, rare anatomical abnormalities such as situs inversus totalis, dextrocardia, or interrupted inferior vena cava can make ablation challenging. METHODS AND RESULTS: We report a case of a 55-year-old woman with situs inversus totalis, dextrocardia, surgical atrial septal defect repair, left-sided dual chamber pacemaker in place, and symptomatic recurrent persistent AF who underwent successful pulmonary vein and posterior wall isolation by the superior access from the left internal jugular vein. CONCLUSIONS: It is a feasible and safe approach with support of transesophageal echocardiography and multiple emerging technologies.

Optic Disc Dysplasia and Situs Inversus.

This case report discusses a diagnosis of optic disc dysplasia made on routine examination of a man aged 33 years.

Mitral valve repair in patients with mirror-image dextrocardia and situs inversus: two cases and a review of the literature.

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.