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.

An Infant with Congenital Diaphragmatic Eventration with Dextrocardia: A Case Report.

Diaphragmatic eventration is a rare condition, and its association with dextrocardia is even a rarer clinical entity. Patients are usually asymptomatic, but the typical features include rapid breathing and recurrent respiratory infections. Here we present a rare case of a seven months old infant, who presented with cough, noisy breathing and chest retraction. The patient was diagnosed to have dextrocardia with diaphragmatic eventration with pneumonia by chest imaging and was treated in coordination with the medical team for underlying pneumonia. Afterwards, plication of the diaphragm was done through the trans-abdominal approach and the symptoms gradually improved postoperatively. For dextrocardia, since there were no structural abnormalities, the patient was kept in regular follow-up in the pediatric cardiology unit. Though most patients are asymptomatic, diaphragmatic eventration increases the risk of recurrent chest infection and hampers the quality of life of the patient, so timely diagnosis and intervention will greatly improve their quality of life. Keywords: dextrocardia; diaphragm; diaphragmatic eventration.

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.

Successful percutaneous left atrial appendage occlusion for atrial fibrillation in a patient with mirror-image dextrocardia: a case report.

BACKGROUND: Dextrocardia is a rare congenital condition (1/10,000-12,000) and AF is uncommon (1-2%). Therefore, the occurrence of the two conditions is rare. Percutaneous left atrial appendage occlusion (LAAO) is a treatment to prevent atrial fibrillation (AF)-associated thromboembolic events. CASE PRESENTATION: An 85-year-old female with known situs inversus totalis, persistent AF, and stroke was treated with oral anticoagulation, but she was suffering from constant gingival bleeding. Her CHA2DS2VASc score was 6 points (abnormal, ≥ 2), and her HAS-BLED score was 4 points (abnormal, ≥ 3). The transthoracic echocardiography (TTE) demonstrated left atrial (LA) enlargement (46 mm) and 50% of ejection fraction. She underwent percutaneous LAAO for stroke recurrence prevention using a Watchman occluder. The operation was successful but with technical differences compared with a standard case because of the dextrocardia. CONCLUSION: This is the first reported case of a percutaneous LAAO in situs inversus dextrocardia. This case indicates the feasibility of LAAO in congenital cardiac malposition combined with AF.

Kartagener's syndrome: a case report

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.

Stent implantation of an unusual morphology patent ductus arteriosus via Glidesheath slender.

The procedure of stenting the patent ductus arteriosus (PDA) is a palliative procedure applied as an alternative to surgery in newborns with ductus-dependent pulmonary circulation. However, it is still a very challenging method in patients with aortic arch anomalies. We describe our experience with a newborn with right atrial isomerism and dextrocardia, complete atrioventricular septal defect, aortic outlet right ventricle with pulmonary atresia, right aortic arch, and a PDA from the left innominate artery. Because the PDA was long and tortuous, we preferred placing three short stents instead of a single long stent. The procedure applied the femoral artery approach with a Glidesheath Slender to decrease arterial injuries. PDA stenting in challenging morphologies can be performed successfully using multiple short stents and via Glidesheath Slenders.

Síndrome de Siewert-Kartagener: diagnóstico clínico de la forma más común de discinesia ciliar primaria / Siewert-Kartagener syndrome: clinical diagnosis of the most common form of primary ciliary dyskinesia

El síndrome de Kartagener (SK) equivale al 50% de las discinesias ciliares primarias, con una incidencia en la población general de 1:15 000 casos. La tríada clásica del SK consiste en sinusitis crónica, bronquiectasias y situs inversus. Se reporta el caso de un lactante de 23 meses que ingresó a la unidad de cuidados intensivos neonatales con diagnóstico de bronconeumonía, insuficiencia cardiaca congestiva y situs inversus. Se diagnosticó dextrocardia mediante electrocardiograma y estudios de imagen. El antecedente de los procesos respiratorios infecciosos altos y bajos desde la etapa neonatal, observando la dextrocardia y la acentuación de la trama broncovascular bibasal, el engrosamiento manifiesto de la mucosa de los senos maxilares de forma bilateral que se observa en la radiografía de senos paranasales, y el antecedente de tener un familiar directo con la misma patología, nos planteó el diagnóstico de discinesia ciliar primaria y dentro de estas el síndrome de Siewert- Kartagener (AU)

Kartagener syndrome (SK) is equivalent to 50% of primary ciliary dyskinesia, with an incidence in the general population of 1: 15 000 cases. The classic triad of SK consists of chronic sinusitis, bronchiectasis and situs inversus. A 23-month-old infant who entered the neonatal intensive care unit with a diagnosis of bronchopneumonia, congestive heart failure, and situs inversus is reported. Dextrocardia was diagnosed by electrocardiogram and imaging studies. The antecedent of the upper and lower infectious respiratory processes from the neonatal stage, observing dextrocardia and accentuation of the vascular bronchovascular tract, the manifest thickening of the mucosa of the maxillary sinuses bilaterally that is observed on the radiography of the sinuses, and the history of having a direct familiar with the same pathology, raised the diagnosis of primary ciliary dyskinesia and specifically Siewert-Kartagener syndrome. (AU)

Mirror-image dextrocardia: why is the apex impulse not on the right?

This article presents the case of an 11-year-old girl with a history of Fortan surgery who presented to the authors' department with shortness of breath, orthopnea, and cyanosis. Electrocardiography (ECG) was indicative of mirror-image dextrocardia despite location of the apex impulse on the left. Echocardiography suggested mirror-image dextrocardia accompanied by levoversion, a large atrial septal defect and left ventricular atresia (functional single atrium and single ventricle), and right ventricular hypertrophy. ECG with corrected leads placement showed a sinus rhythm, biatrail enlargement, and right ventricular hypertrophy. Based on echocardiography and medical history, the case was rediagnosed as mirror-image dextrocardia with levoversion.

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.

Dextrocardia como hallazgo incidental: revisión a partir de un caso / Dextrocardia as incidental finding: review from a case

INTRODUCTION: Dextrocardia is characterized by the positioning of the heart to the right of the thoracic cavity, usually with the apex oriented to the right and its inverse anatomy 1,2. It is a rare congenital pathology that can be associated with other congenital cardiac anomalies, as well as a change in position of all thoracoabdominal structures 1-4. Its diagnosis in adult life is usually incidental. We present the clinical case of a 64-year-old man with an electrocardiogram that showed deviation of the QRS complex axis to the extreme right and a physical examination compatible with dextrocardia, which was later confirmed with images. OBJECTIVES: To review the medical literature related to the diagnosis of dextrocardia through the presentation of a clinical case. METHODS: The clinical data of the case were collected by means of anamnesis, physical examination and specialized exams of the patient, as well as his clinical file. The literary review was made using the MEDLINE® search engine for scientific journals. RESULTS: Dextrocardia affects less than 1% of the general population according to the studies reviewed. Its importance lies in the association with other congenital pathologies such as cardiac and extracardiac structural malformations, which increases morbidity and mortality in this group of patients. It is imperative, when suspected, complete the study with images that allow confirming or ruling out other structural anomalies.

Situs inversus totalis asociado a síndrome de preexcitación ventricular: reporte de un caso / Situs inversus totalis and pre excitation syndrome

Resumen: El situs inversus totalis es la inversión congénita completa de órganos torácicos y abdominales. Se presenta el caso de una paciente de 3 años sin antecedentes médicos previos, a quien en atención primaria, y por un cuadro respiratorio agudo, se evidencia el hallazgo de dextrocardia y burbuja gástrica a derecha en la radiografía de tórax, sospechándose situs inversus totalis. Fue derivada a cardiología infantil donde se confirmó el diagnóstico con un ecocardiograma transtorácico, asociado a un hallazgo de preexcitación ventricular en el electrocardiograma. Una vez resuelto el cuadro respiratorio agudo, la paciente se mantiene controlada de manera periódica en atención primaria y por especialista de manera semestral.

Abstract: Situs inversus totalis is the complete congenital inversion of thoracic and abdominal organs. We present the case of a 3-year-old girl with no previous medical history. When seen with an acute respiratory syndrome, dextrocardia and gastric bubble on the right side led to the diagnosis of Situs inversus. She was referred to infant cardiology where the diagnosis was confirmed with a transthoracic echocardiogram. In addition, the electrocardiogram identified the presence of ventricular preexitation. Once the acute respiratory symptoms subsided, the patient remains controlled periodically in primary care and by a specialist every six months. No episodes of tachycardia have been detected.

Off-Pump "Clamp and Sew" Extracardiac Fontan With Inverted Bifurcated Graft for Dextrocardia With Heterotaxy Syndrome.

Avoiding cardiopulmonary bypass during palliation of single ventricle has the advantages of minimizing transfusions, pulmonary vascular resistance, and avoiding the inflammatory response from cardiopulmonary bypass. It is however not always straightforward, and the technique may be faced with challenges.

ST-Elevation Myocardial Infarction in a Patient Having Dextrocardia with Situs Inversus.

BACKGROUND: Dextrocardia with situs inversus is a rare genetic condition in which the heart and internal organs are positioned on the opposite side of the body. Diagnosing and treating acute myocardial infarction correctly in a patient with dextrocardia is a difficult task. CASE REPORT: We present the case of an acute anterior wall ST elevation myocardial infarction (STEMI) in a patient with dextrocardia with situs inversus diagnosed after a lead reversal electrocardiogram (ECG). The patient then successfully underwent percutaneous coronary intervention and subsequent multivessel coronary artery bypass grafting. We discuss the original diagnosis and decision-making, clinical features, ECG characteristics, and disposition of the patient, as well as a review of the relevant literature. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians must identify and recognize the typical ECG of dextrocardia, especially when presenting with pathology, as its identification can lead to proper diagnosis and treatment.