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.

[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.

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.

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.

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.

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.

To flip or not: Case series of coronary angioplasty in patients with right-sided heart.

Coronary angioplasty in patients with a right-sided heart may be difficult due to challenges in engaging the coronary arteries, interpreting angiogram, and further delivering intracoronary therapies. We present our experience of percutaneous coronary intervention in two cases and propose a practical algorithm to approach cardiac catheterization in these patients.

Three-dimensional high-definition live tissue virtual dissection of mirror-image dextrocardia with thoracic-abdominal discordance in a fetus.

Three-dimensional virtual dissection using high-definition live tissue rendering ultrasound tool of a 23-week gestation fetus with situs solitus, mirror image dextrocardia, ventricular septal defect, aortic override, and pulmonary atresia.

Different leadless pacemakers working in harmony (Aveir in the atrium/Micra AV2 in the ventricle) in a patient with dextrocardia and double outlet right ventricle after high-risk infected device extraction.

INTRODUCTION: Patients with congenital heart disease are at increased risk for requiring cardiac pacing during their lifetime. METHODS: We present the first described case of using two leadless pacing systems manufactured by separate companies implanted within the same patient to provide atrial and ventricular pacing due to complex congenital anatomy. RESULTS: A 27-year-old male with dextrocardia with double outlet right ventricle, subaortic ventricular septal defect, and pulmonary stenosis status-post pulmonary valve replacement complicated by ventricular pacing dependence and subsequent atrial pacing dependence after atriotomy-based atypical flutter ablation developed recurrent mediastinitis and pocket infection with erosion despite prolonged antibiotic treatment. Due to atrial and ventricular pacing dependence, a comprehensive congenital care team concluded the need for lead extraction and replacement of pacemaker via leadless peacemaking device. Laser-lead extraction and temporary atrial pacemaker placement was performed. Afterward, a transesophageal echocardiogram guided implantation of both a Micra AV 2 (Medtronic) leadless pacemaker in the interventricular septum within the right ventricle and an Aveir (Abbott) leadless pacemaker in the superior base of the right atrial appendage was performed with successful pacing. Although there is no communication between these devices, atrial-mechanical ventricular pacing was reliable with good implant thresholds, impedances and sensing from both devices. CONCLUSION: Our case demonstrates the feasibility of using dual leadless pacing modalities to simultaneously pace someone at complex, prohibitive risk for temporary permanent or permanent pacemaker devices.

Ideal chest compression site for cardiopulmonary resuscitation in fontan circulation patients with dextrocardia.

BACKGROUND: We aimed to identify the ideal chest compression site for cardiopulmonary resuscitation (CPR) in patients with a single ventricle with dextrocardia corrected by Fontan surgery. METHODS: The most recent stored chest computed tomography images of all patients with a single ventricle who underwent Fontan surgery were retrospectively analysed. We reported that the ideal chest compression site is the largest part of the compressed single ventricle. To identify the ideal chest compression site, we measured the distance from the midline of the sternum to the point of the maximum sagittal area of the single ventricle as a deviation and calculated the area fraction of the compressed structures. RESULTS: 58 patients (67.2% male) were analysed. The mean right deviation from the midline of the sternum to the ideal compression site was similar to the mean sternum width (32.85 ± 15.61 vs. 31.05 ± 6.75 mm). When chest compression was performed at the ideal site, the area fraction of the single ventricle significantly increased by 7%, which was greater than that of conventional compression (0.15 ± 0.10 vs. 0.22 ± 0.11, P < 0.05). CONCLUSIONS: When performing CPR on a patient with Fontan circulation with dextrocardia, right-sided chest compression may be better than the conventional location.

Coronary Angiography and Chronic Total Occlusion Angioplasty in a Patient With Situs Inversus from the Right Radial Approach.

We present the case of a patient with known situs inversus referred for cardiac catheterization, which revealed a chronic total occlusion of the right coronary artery. Situs inversus, a rare congenital abnormality, is a term used to describe the inverted position of the chest and abdominal organs. Cardiac catheterization is rare in patients with this particular abnormality. It is important to customize techniques to engage coronary arteries and optimize guide support if percutaneous coronary intervention is required in these particular cases.

Electronic visualized double-lumen endobronchial tube for situs inversus totalis: A case report and literature review.

RATIONALE: Using an electronic visualized double-lumen endobronchial tube (E-visual DLT) allows for excellent surgical visualization during one-lung ventilation. Situs inversus totalis (SIT) is a rare autosomal recessive genetic condition wherein the bronchial and pulmonary lobar structures on the left and right sides of individuals are reversed compared to those of the general population. In the case of SIT, placing a left-sided E-visual DLT into the right bronchus might offer more advantageous one-lung ventilation. However, there have been no reported instances of using E-visual DLT single-lung ventilation anesthesia techniques for SIT. PATIENTS CONCERNS: We present a case report detailing the effective implementation of a visualized single-lung ventilation technique under general anesthesia in a 36-year-old male diagnosed with SIT. The patient had a mediastinal mass and underwent thoracoscopic resection of the mediastinal mass using a left-sided approach. DIAGNOSES: Based on the findings from the contrast-enhanced chest computed tomography (CT) results, the patient was diagnosed with SIT along with a mediastinal mass. Surgical intervention was proposed to alleviate the cardiac compression caused by the mass. Nevertheless, the administration and handling of anesthesia posed a notable challenge since clinical anesthesiologists encounter contradictory data and a limited number of evidence-based guidelines. INTERVENTIONS: Convened a multidisciplinary meeting prior to the initiation of anesthesia to formulate a comprehensive strategy. Throughout the anesthetic management, our team ensured meticulous monitoring, delivered sufficient oxygenation, and established hemodynamic equilibrium. The anesthesia team deliberated and devised a plan to employ a left-sided E-visual DLT placement through the right bronchus for right-sided one-lung ventilation in the patient with SIT. The process of anesthesia induction was subjected to repeated simulations to guarantee patient safety. OUTCOMES: Due to the meticulous and effective administration and supervision of anesthesia, the surgery was completed as planned. Subsequently, the removal of the E-visual DLT was executed without any complications. LESSONS: Data and literature about SIT are scarce, necessitating thorough pre-planning and preparation.

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.