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.

Successful Retrograde Percutaneous Coronary Intervention for Chronic Total Occlusion in a Patient with Dextrocardia.

Dextrocardia is a very rare congenital malposition, and most cardiologists are not familiar with the radiographic angiograms of this condition. Here, we first report a case of dextrocardia with a chronic total occlusion (CTO) lesion undergoing retrograde percutaneous coronary intervention (PCI). Significant difficulties in lesion interpretation and device manipulation were encountered with the original angiograms. These challenges were not significantly improved until we adopted the double-inversion technique. The procedure was finally accomplished by using the kissing wire technique with a poor angle of attack. Retrograde CTO PCI for patients with dextrocardia is feasible with adequate techniques.

[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.

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.

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.

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.

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.

Percutaneous coronary intervention for chronic total occlusion of the left circumflex branch in mirror dextrocardia: a case report.

BACKGROUND: Mirror dextrocardia (MDC) is a condition in which the heart is located in a mirror-image position on the right side of the chest compared to the normal position in individuals with physiological variations. Patients with MDC and chronic total occlusion (CTO) of the left circumflex branch (LCX) are extremely rare in clinical practice. The treatment of MDC-CTO-LCX differs significantly from patients without mirror dextrocardia and the same condition in terms of instrument selection and procedural techniques. In this article, we report a successful case of interventional treatment in a patient with MDC-CTO-LCX. We summarize the anatomical and electrocardiographic variations in patients with MDC-CTO-LCX, and discuss the selection of interventional instruments and techniques that can be useful for interventionists as well as the diagnostic and therapeutic considerations that can be helpful for clinical physicians. CASE PRESENTATION: A male Han Chinese patient, 51, was admitted, presenting recurrent chest pain for a year and recent onset of exertional fatigue over the past week.He reported episodes of chest pain following physical activities over the past year, lasting between 5 and 20 min.Despite these symptoms, the patient did not seek immediate medical attention, and the occurrence of his chest pain has progressively lessened within the year.A week prior, the patient developed exertional dyspnea after brief walks, though without any episodes of nocturnal paroxysmal dyspnea.Upon arrival at our hospital for evaluation, he was initially diagnosed with chronic coronary syndrome, previous inferior myocardial infarction, atrial arrhythmia, and classified under the New York Heart Association functional class III.Following his admission, a chest X-ray and coronary angiography were conducted.The results indicated mirror dextrocardia and total occlusion of the left circumflex branch. Percutaneous coronary intervention (PCI) was performed on the left circumflex branch. Subsequent angiography demonstrated optimal stent positioning without evidence of hematoma or dissection.Following the procedure, the patient's symptoms of chest pain and exertional dyspnea were resolved, which led to his subsequent discharge.A follow-up electrocardiogram, 10 months post-procedure, displayed a slow and regular atrial rhythm. CONCLUSIONS: The incidence of dextrocardia is very low, and it may appear normal on an electrocardiogram; however, careful diagnosis is required when there is an abnormal direction of the P wave in limb leads. During the operation for chronic occlusive lesions of the right-sided coronary artery, the anomalous anatomical structure necessitates specific requirements for instrument selection and operative techniques. After revascularization of chronic occlusive vessels in dextrocardia, routine electrocardiographic examination may show false normalization, requiring caution in interpretation.

Insertion of a totally implantable vascular access device in a patient with dextrocardia and colon cancer: a case report.

Colon cancer in patients with situs inversus totalis is rarely associated with dextrocardia, and chemotherapy is commonly used for treatment. Central venous access devices are used to administer intravenous fluids and chemotherapy in patients with colon cancer. Compared with peripherally inserted central catheters and Hickman-type tunneled catheters, totally implantable vascular access devices (TIVADs) are safer and more effective. However, positioning the catheter tip may be challenging in patients with dextrocardia and situs inversus. We herein describe a novel case involving a patient with dextrocardia and colon cancer who was treated by TIVAD insertion with intracavitary electrocardiography-aided tip localization.

BMP2 is a potential causative gene for isolated dextrocardia situs solitus.

BMP2 (bone morphogenic protein-2) is a member of the TGF-ß superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. However, due to a small number of reported patients with BMP2 haploinsufficiency, the genotype and phenotype correlations are not fully understood. We experienced a family of BMP2 haploinsufficiency with a novel frameshift variant NM_001200.4: c.231dup (p.Tyr78Leufs*38) which was predicted to be "pathogenic" by the American College of Genetics and Genomics (ACGM) criteria. In addition to short stature, impaired hearing ability and minor skeletal deformities, the proband exhibited isolated dextrocardia situs solitus without cardiac anomalies and abnormal locations of other visceral organs. Our study would shed light on the crucial role of BMP2 in determining the cardiac axis, and further studies are needed to assemble more cases to elucidate BMP2 role in human heart development.

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.

3D TEE imaging in a patient with severe tricuspid regurgitation with dextrocardia and tricuspid commissural prolapse.

Although dextrocardia is a rare congenital anomaly, it may be accompanied by numerous pathologies. Tricuspid valve prolapse is an extremely uncommon cause of primary tricuspid valve disease, as is its association with dextrocardia. In this instance, we wished to share our knowledge of tricuspid commissural prolapse together with dextrocardia, which we augmented with 3D images.

Konno-Rastan Operation in a Patient With Dextrocardia and Situs Inversus.

The Konno-Rastan operation is performed for relief of complex left ventricular outflow obstruction with a small aortic annulus. When associated with situs inversus and dextrocardia, important aspects should be kept in mind due to the mirror-image anatomy. In this report, we present a case of a 10-year-old child with the diagnosis of recurrent diffuse subaortic stenosis and situs inversus and dextrocardia who underwent the Konno-Rastan operation successfully and was asymptomatic with normal physical activity after a follow-up period of one year.

Robotic magnetic navigation-guided pulmonary vein isolation in an atrial fibrillation patient with dextrocardia situs inversus: techniques and potential advantages.

BACKGROUND: Dextrocardia with situs inversus (DSI) is a very rare congenital anomaly. Catheter manipulation and ablation of atrial fibrillation (AF) in patients with this anatomical variant is challenging for the operators. This case report presents a safe and effective AF ablation guided by the robotic magnetic navigation (RMN) system in combination with intracardiac echocardiograhy (ICE) in a patient with DSI. CASE PRESENTATION: A 64-year-old male with DSI was referred for catheter ablation of symptomatic, drug-refractory paroxysmal AF. One transseptal access was achieved via the left femoral vein under the guidance of ICE. The three-dimensional reconstruction of the left atrium and the pulmonary veins (PVs) were performed by the magnetic catheter using the CARTO and the RMN system. Then, the electroanatomic map and pre-acquired CT images were merged. Finally, bilateral circumferential ablation lines were delivered around the ipsilateral PV ostia to achieve complete PV isolation (PVI). CONCLUSIONS: This case demonstrates that AF catheter ablation under the guidance of the RMN system using ICE is feasible and safe in a patient with DSI. Moreover, the combination of these technologies broadly facilitates treatment of patients with complex anatomy, while reducing the risk of complications.

Optimizing the tip position of a peripherally inserted central venous catheter under a multidisciplinary team approach in a patient with mirror-image dextrocardia: a case report.

Peripherally inserted central venous catheters (PICCs) are widely used in cardiology because they are convenient, effective, and safe. However, PICC implantation in patients with mirror-image dextrocardia who have thoracic tumors has not yet been reported. In this case report, we describe a 46-year-old patient with lung cancer who had a thoracic inclination and left pulmonary artery compression of the superior vena cava. PICC implantation under B-ultrasound guidance was planned. Because of the anatomical differences caused by mirror-image dextrocardia, we investigated the optimal position and measurement method for the tip of the PICC according to the compression site of the vascular lumen through a multidisciplinary team approach. Electrocardiography-assisted tip positioning combined with postoperative chest X-ray positioning was performed for accurate positioning.