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.

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.

Coronary Artery Bypass Grafting in a Patient With Multivessel Disease and Dextrocardia With Situs Inversus Totalis.

Dextrocardia with situs inversus totalis is a rare hereditary condition characterized by reversed orientation of the major thoracic and abdominal organs. Though dextrocardia itself is not believed to increase the risk of coronary artery disease, the workup and surgical management of patients with this condition may be technically challenging to heart team clinicians. This report describes the case management of a high-risk 56-year-old man with dextrocardia who presented with multivessel coronary artery disease.

Successful Endoscopic Treatment of a Pancreatic Pseudocyst in a Patient with Situs Inversus Totalis and Upper GI Duplication.

BACKGROUND Duplication of the gastrointestinal tract is a rare congenital malformation that can develop in any part of the digestive tract. These duplications may be asymptomatic into adult age. Situs inversus totalis is a rare congenital anomaly characterized by a mirror transposition of thoracic and abdominal organs. We present a case of a pancreatic pseudocyst in a patient with a combination of situs inversus totalis and doubling of the esophagus, stomach, and first part of the duodenum. CASE REPORT A 64-year-old woman presented with epigastric pain. Abdominal computed tomography revealed a pancreatic pseudocyst and a previously identified duplication of the esophagus, stomach, and duodenum with situs inversus totalis. The patient underwent esophagogastroduodenoscopy (EGD) with endoscopic ultrasonography for pseudocyst drainage. During EGD, a bifurcation of the esophagus was found. Duplication of the esophagus, stomach, and first part of the duodenum was evident on further advancement. A week later, there was repeated filling of the pseudocyst with a liquid component, and the patient underwent cystogastrostomy with stenting. Five months after discharge, the stent was removed without complications. CONCLUSIONS Duplication of the gastrointestinal tract and situs inversus totalis are very rare congenital malformations that require early diagnosis. While situs inversus totalis does not represent any medical disadvantage, physicians should be aware of abnormal anatomy before procedures to prepare specialists for this in case of the need for special techniques. Endoscopic treatment of pancreatic pseudocysts is safe and effective even in such rare cases. The use of endoscopic methods also minimizes intervention and decreases the length of the patients' stays in the hospital.

Association between types of abdominopelvic cancer in patients with situs inversus total: Systematic review.

BACKGROUND: Situs inversus is a rare congenital anatomical variant that involves a group of anomalies regarding the arrangement of intrathoracic and intraabdominal organs. Being able to find in the abdominal region the liver, gallbladder, inferior vena cava, and head of the pancreas and ascending colon on the left side of the abdomen, while on the right side there is the spleen, the stomach, the body of the pancreas, the ligament of Treitz, descending colon among others. In this same way, the thoracic organs, lungs and heart, are changed in their position in a mirror translocation. METHODS: We systematically searched MEDLINE, Web of Science, Google Scholar, CINAHL, Scopus, and LILACS; the search strategy included a combination of the following terms: "Situs inversus," "Situs inversus totalis," "Cancer," "Neoplasm," "Abdominopelvic regions," and "clinical anatomy." RESULTS: Within the 41 included studies, 46 patients with situs inversus who had cancer, in addition to being found in this organ and in these regions, we also found as a result that the majority of the studies in the research were in stage II; finally, no one study could assert the direct relationship between the situs inversus totalis and the cancer. CONCLUSION: If our hallmarks could make us think that more exhaustive follow-up of the stomach and other organs should be carried out in these patients, there could also be other predisposing factors for cancer, which is why more studies are suggested to give future diagnostic and treatment guidelines treatment.

A Case of Left-Sided Acute Appendicitis in a 45-Year-Old Man with Situs Inversus Totalis Managed by Emergent Laparoscopic Appendectomy.

BACKGROUND Situs inversus totalis (SIT) is a rare congenital abnormality that includes mirror-image transposition of both the abdominal and the thoracic organs. It may remain undetected into adulthood until an acute medical emergency results in diagnostic imaging. This report presents a challenging case of left-sided acute appendicitis in a 45-year-old man with SIT. CASE REPORT A 45-year-old man with a medical history of gastroesophageal reflux disease, class 2 obesity, prediabetes, and elevated low-density lipoprotein cholesterol presented with severe acute abdominal pain localized in the left lower quadrant with localized tenderness, nausea, and 2 episodes of non-bloody and non-bilious emesis that started a day before the clinical encounter. Computed tomography of the abdomen and pelvis revealed previously undiagnosed congenital SIT. In addition, physical, laboratory, and radiological findings suggested early acute appendicitis with no evidence of complications. Hence, the patient was managed with an emergent laparoscopic appendectomy. Acute appendicitis was confirmed in the post-surgery histopathological examination. The post-surgery recovery was uneventful, and the patient was discharged home on the second postoperative day. CONCLUSIONS This report highlights that SIT may remain undiagnosed into adulthood and poses a challenge in the diagnosis of left-side appendicitis due to atypical symptom presentation, supporting the findings of previous case reports. Therefore, the inclusion of left-sided acute appendicitis in the differential diagnosis of abdominal pain in the left lower quadrant is warranted.

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.

Un cas de situs inversus complet associé à une communication interventriculaire et des anomalies oculaires chez une chienne croisée de 3 ans.

A case of complete situs inversus associated with an interventricular communication and ocular abnormalities in a 3-year-old mixed-breed female dog. A 3-year-old female dog was referred for exploration of a murmur concomitant with lethargy. An echocardiogram reveals an inversion of the position of the cardiac chambers and the presence of an interventricular communication. A computed tomography examination of the thorax and abdomen highlights the known cardiac abnormalities as well as the association of a complete situs inversus. The clinical examination also reveals ocular malformations (deviation of the eyeballs and asymmetry of the fundus). This article highlights the variety of abnormalities that can be associated with the complete inversion of the organs and demonstrates that there may be variants to the more classic picture usually encountered in humans (respiratory manifestations related to Kartagener syndrome).(Translated by Dr Serge Messier).

[Laparoscopic cholecystectomy with common bile duct exploration in situs inversus totalis patient]. / Colecistectomía con exploración de vías biliares laparoscópica en paciente con situs inversus totalis.

We present the case of a 77-year-old male patient with a diagnosis of chronic calculous cholecystitis and choledocholithiasis, with a history of situs inversus totalis. Therefore, a laparoscopic cholecystectomy with common bile duct exploration were performed, using the "french mirror technique", with stone extraction. Patient evolved favorably. The aim of this study is to present this clinical case that is rarely reported in the world literature (only 9 cases). Its importance lies in the fact that it would be the first published clinical case report of a laparoscopic cholecystectomy and bile duct exploration with removal of the common bile duct stones in a patient with situs inversus totalis, performed in Peru.

Incidental Finding of Dextrocardia with Situs Inversus and Absent Left Kidney: A Case Report.

Dextrocardia is an unusual inherent positioning of the heart: during fetal life, the heart is flipped to the right side rather than the usual left side. Situs inversus is a rare congenital ailment in which the main internal organs are rearranged or reflected from their natural positions, and when both conditions are present, it is called situs inversus totalis. The majority of the people with situs inversus totalis are unaware of the situation they have because most of them are asymptomatic. It is usually discovered incidentally when they consult the doctor for an unrelated condition. We are reporting a case of a 55-year-old woman who was found to have a situs inversus totalis with an absent left kidney.

Choledochal cyst and aberrant biliary configuration along with situs inversus totalis: a case report.

Situs inversus totalis is the complete transpositioning of thoracoabdominal viscera into a mirror image of the normal configuration. Choledochal cyst is the congenital cystic dilation of the biliary tract. Both these conditions coexisting in a patient is extremely rare. We hereby present a case of type IC choledochal cyst in a patient with situs inversus totalis presenting with biliary sepsis secondary to choledocholithiasis. Also detailed are the management and operative strategies employed to deal with this rare entity.

[Dyspnea and situs inversus in a boy aged 3 days].

A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the DNAH5 gene. Kartagener syndrome is a rare autosomal recessive disease, and this is the first case of Kartagener syndrome diagnosed in the neonatal period in China.

Left Pulmonary Artery Patch Augmentation for Lung Transplant in a Patient With Situs Inversus.

Kartagener syndrome is characterized by situs inversus and defective cilia motion, the latter of which can lead to chronic infections and respiratory failure. If lung transplant is indicated, dextrocardia can pose surgical challenges. We report a rare case of sequential bilateral lung transplant in a 58-year-old man with Kartagener syndrome whose left pulmonary artery was abnormal in length, location, and direction. After placing the donor lungs in their orthotopic position, we augmented the recipient left pulmonary artery with a bovine pericardial patch. After 17 months of follow-up, the patient was in good condition with excellent graft function.

Laparoscopic Distal Gastrectomy for Synchronous Gastric Cancer and Gastrointestinal Stromal Tumor With Situs Inversus Totalis.

BACKGROUND: Situs inversus totalis (SIT) is a rare congenital condition in which the thoracic and abdominal organs are inverted like a mirror image. CASE REPORT: We present a case of synchronous gastric cancer and gastrointestinal stromal tumor (GIST) associated with SIT in a 74-year-old man who was admitted to our department to treat gastric cancer. Esophagogastroduodenoscopy revealed a depressed lesion and a submucosal tumor (SMT) in the middle-third of the stomach. Abdominal contrast-enhanced computed tomography revealed complete inversion of the internal organs, and the common hepatic artery branched from the superior mesenteric artery. The patient underwent laparoscopic distal gastrectomy with regional lymph node dissection and Billroth I reconstruction. The macroscopic observation of the resected specimen revealed a depressed lesion measuring 2.0×1.5 cm in diameter and an SMT measuring 2.2×1.8 cm. CONCLUSION: Careful preoperative anatomic evaluation is important in SIT because the situs anomalies may be accompanied by major vascular anomalies.

Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia.

Situs inversus, a condition in which the major visceral organs are reversed from their normal positions in the body, can be detected by prenatal ultrasonography. Often benign, it may be associated with primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory disease. Yet, prenatal diagnosis of primary ciliary dyskinesia has not been reported. We describe a pregnancy in which situs inversus was diagnosed by fetal ultrasound at 20 weeks gestation. Prenatal testing for primary ciliary dyskinesia led to the discovery that both parents were asymptomatic carriers of a pathogenic mutation in the CCDC103 gene, with an affected neonate.

Acute coronary syndrome in Dextrocardia.

Situs inversus with dextrocardia is both a clinical and diagnostic challenge for emergency physicians to properly identify acute coronary syndrome. While dextrocardia itself does not independently increase the risk of coronary artery disease, mirrored symptoms, including right-sided and rightward radiating chest pain in any patient with cardiac risk factors should raise suspicion for acute coronary syndrome. In patients with a reversed cardiac silhouette on a chest radiograph, a reversed electrocardiogram, to include both the precordial and limb leads, is necessary to evaluate for cardiac ischemia in presumed dextrocardia. The authors present a case of a 66-year-old man with dextrocardia who presented with shortness of breath and hypotension. Rapid application of a reversed electrocardiogram resulted in the timely diagnosis of ST-segment elevation myocardial infarction and activation of the cardiac catheterization laboratory resulting in the preservation of this patient's life.

A rare case of situs inversus totalis associated with sigmoid diverticulitis and appendicular agenesis. Embryological, clinical considerations and literature review.

The revelation of situs inversus totalis by a peritoneal syndrome is an extremely rare event. The association of this condition with sigmoid diverticulitis and agenesis of the vermiform appendix has not been described in the literature. This paper aims to present the first case of this type while screening the literature on this topic. The authors present the case of a sigmoid diverticulitis associated with situs inversus totalis and agenesis of the vermiform appendix, in a 44-year-old male patient. Because of abdominal pain located in the right iliac fossa, elevated temperature (38.2°C) and biological examinations, acute appendicitis was rather simulated and considered as a presumptive diagnosis. Diagnostic accuracy was achieved during laparoscopic exploration of the peritoneal cavity, which proved the coexistence of visceral transposition, appendiceal agenesis and sigmoid diverticulitis, usually noted as a rare finding. Secondly, we performed a systematic search on PubMed® and Google Scholar® databases introducing the following terms: situs inversus totalis, acute appendicitis. Given the time span of the last 30 years, we have obtained a small number of cases in which symptoms that are specific to acute appendicitis have been found in patients with situs inversus totalis. Due to the rare number of cases, it is difficult to establish a preoperative diagnosis. Usually, this diagnosis is revealed as an intraoperative surprise. A careful clinical examination and a set of standardized paraclinical examinations can guide the diagnosis. The patient's evolution was favorable, without any other changes at the subsequent examinations.

A Huge Ovarian Mucinous Cystadenoma in a 15-Year-Old Girl with Situs Inversus Totalis: Report of a Rare Case.

BACKGROUND: Ovarian mucinous cystadenomas with situs inversus totalis are infrequent in pubertal girls. Surgical techniques on their treatment without affecting ovary anatomical and physiological function have always been a great challenge. CASE: A 15-year-old girl presented with abdominal distension and pain due to some huge growths. Computed tomography imaging showed that the heart and whole abdomen viscera were inversely located. Two big low-density masses were found in the abdominopelvic cavity. An exploratory laparotomy was performed and 2 tumors were removed. Pathology confirmed a mucinous cystadenoma. SUMMARY AND CONCLUSION: Ovarian mucinous cystadenomas with situs inversus totalis can be detected with detailed physical and radiological examination. For adolescent female patients, particular attention should be paid to protect the reproductive anatomical structure during surgery.