Kartagener's Syndrome: A Case Series.

Kartagener's syndrome is an uncommon autosomal recessive ciliary dyskinesia. It combines a triad comprised of bronchiectasis, chronic sinusitis, and situs inversus. This work aims to describe the clinical and paraclinical aspects of primary ciliary dyskinesia using Kartagener's syndrome as a model and to highlight the difficulties of confirming the diagnosis in our context. We report four observations (three boys and one girl with an average age of 10 years) of Kartagener's syndrome collected in the department of pediatric pneumo-allergology. Chronic bronchorrhea and otorhinolaryngological manifestations were found in all cases. Signs of neonatal respiratory distress syndrome were found in only one case. One child had dysmorphic facial features suggestive of Noonan's syndrome and conductive hearing loss. Digital hippocratism was found in half of the cases, along with pulmonary crackles and heart sounds perceived on the right. A chest CT scan showed bronchiectasis in all patients and necrotic adenopathy suggestive of tuberculosis in one case. Sinus imaging showed an appearance of pansinusitis. All children had abdominal situs inversus with dextrocardia. They had received antibiotic therapy with amoxicillin-clavulanic acid associated with respiratory physiotherapy. The girl had benefited from a right lobectomy with a follow-up of 18 months and a good evolution. In light of these four observations, Kartagener's syndrome is a rare disease but can be compatible with normal life if the treatment is done early. However, in our context, the difficulty of confirming the diagnosis explains its delay with the risk of progression of pulmonary lesions.

Successful Left Atrial Posterior Wall Isolation Including Roof Line Ablation Using a Cryoballoon for Persistent Atrial Fibrillation with Dextrocardia and Situs Inversus.

Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.

Human Genetics of Defects of Situs.

Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left-right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins. A substantial overlap of these genes is observed with genes associated with other congenital heart diseases such as tetralogy of Fallot and double-outlet right ventricle, d-transposition of the great arteries, and atrioventricular septal defects. In this chapter, we present the broad genetic heterogeneity of situs defects including recent human genomics efforts.

Establishment of Cardiac Laterality.

Formation of the vertebrate heart with its complex arterial and venous connections is critically dependent on patterning of the left-right axis during early embryonic development. Abnormalities in left-right patterning can lead to a variety of complex life-threatening congenital heart defects. A highly conserved pathway responsible for left-right axis specification has been uncovered. This pathway involves initial asymmetric activation of a nodal signaling cascade at the embryonic node, followed by its propagation to the left lateral plate mesoderm and activation of left-sided expression of the Pitx2 transcription factor specifying visceral organ asymmetry. Intriguingly, recent work suggests that cardiac laterality is encoded by intrinsic cell and tissue chirality independent of Nodal signaling. Thus, Nodal signaling may be superimposed on this intrinsic chirality, providing additional instructive cues to pattern cardiac situs. The impact of intrinsic chirality and the perturbation of left-right patterning on myofiber organization and cardiac function warrants further investigation. We summarize recent insights gained from studies in animal models and also some human clinical studies in a brief overview of the complex processes regulating cardiac asymmetry and their impact on cardiac function and the pathogenesis of congenital heart defects.

Molecular Pathways and Animal Models of Defects in Situs.

Left-right patterning is among the least well understood of the three axes defining the body plan, and yet it is no less important, with left-right patterning defects causing structural birth defects with high morbidity and mortality, such as complex congenital heart disease, biliary atresia, or intestinal malrotation. The cell signaling pathways governing left-right asymmetry are highly conserved and involve multiple components of the TGF-ß superfamily of cell signaling molecules. Central to left-right patterning is the differential activation of Nodal on the left, and BMP signaling on the right. In addition, a plethora of other cell signaling pathways including Shh, FGF, and Notch also contribute to the regulation of left-right patterning. In vertebrate embryos such as the mouse, frog, or zebrafish, the specification of left-right identity requires the left-right organizer (LRO) containing cells with motile and primary cilia that mediate the left-sided propagation of Nodal signaling, followed by left-sided activation of Lefty and then Pitx2, a transcription factor that specifies visceral organ asymmetry. While this overall scheme is well conserved, there are striking species differences, including the finding that motile cilia do not play a role in left-right patterning in some vertebrates. Surprisingly, the direction of heart looping, one of the first signs of organ left-right asymmetry, was recently shown to be specified by intrinsic cell chirality, not Nodal signaling, possibly a reflection of the early origin of Nodal signaling in radially symmetric organisms. How this intrinsic chirality interacts with downstream molecular pathways regulating visceral organ asymmetry will need to be further investigated to elucidate how disturbance in left-right patterning may contribute to complex CHD.

Kartagener's Syndrome Complicated by Bronchiectasis with Tricuspid and Mitral Valve Regurgitation: A Case Report.

Background: Kartagener's syndrome, a rare autosomal recessive genetic disorder, is characterized by primary ciliary dyskinesia (PCD), resulting in defective cilia function in the respiratory tract and fallopian tubes. Case presentation: This case report discusses a 23-year-old female with Kartagener's syndrome, bronchiectasis, and cardiac involvement, who presented with shortness of breath, cough, and syncope. Notably, she received home oxygen therapy but became exhausted, leading to loss of consciousness. Clinical examination revealed prominent heart sounds and abnormal lung findings. Laboratory results indicated leukocytosis, and an ECG confirmed dextrocardia and cardiac abnormalities. Doppler studies identified mitral and tricuspid regurgitation along with severe pulmonary arterial hypertension. Antibiotics were administered for coagulase-negative Staphylococcus infection. The patient improved with a treatment regimen, including oxygenation and nebulization. Regular follow-up and patient education were emphasized. Conclusion: This case underscores the complexity of Kartagener's syndrome and the importance of a multidisciplinary approach in managing its respiratory and cardiac manifestations.

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.

Clinical implications of dextrocardia based on four visceroatrial situs studies.

BACKGROUND: Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs. METHODS: We retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs. RESULTS: Dextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage. CONCLUSION: Our study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.

Navigating Infertility in Kartagener's Syndrome: A Clinical Case Report.

Kartagener's syndrome is a genetic condition that is caused by a triad of symptoms, which includes bronchiectasis, chronic sinusitis, and situs inversus, and is considered rare. It is caused by defective ciliary motility, leading to impaired mucociliary clearance. We report a case of a 24-year-old male who presented with primary infertility and a long-standing history of recurrent respiratory infections. Physical examination revealed dextrocardia and digital clubbing. Radiological investigations confirmed situs inversus totalis and bronchiectasis. Semen analysis revealed azoospermia. Genetic analysis was not done due to financial constraints. However, the constellation of clinical features was diagnostic of Kartagener's syndrome. The patient was managed with antibiotics and chest physiotherapy. In vitro fertilization (IVF) was advised for infertility. A successful pregnancy was achieved through IVF, indicating viable sperm despite immotility. The aforementioned case underscores the significance of maintaining a heightened sense of suspicion for Kartagener's syndrome in individuals exhibiting unexplained bronchiectasis and infertility. Early diagnosis can prevent chronic respiratory morbidity and enable parenthood through assisted reproduction.

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.

Transhepatic Access for Percutaneous Mitral Balloon Commissurotomy With Dextrocardia and Inferior Vena Cava Interruption.

We report a successful percutaneous mitral balloon commissurotomy via left transhepatic venous access in a 42-year-old female patient with dextrocardia, situs inversus totalis, and inferior vena cava interruption. fWe also discuss the revisions required for optimal trans-septal approach from the left transhepatic vein.

An interesting electrocardiogram caused by lead reversal.

BACKGROUND: During normal sinus rhythm, atrial depolarization is conducted from right atrium to left atrium through Bachmann's bundle, and a normal P wave axis which is measured on the frontal plane is between 0º and + 75º. The change of P wave polarity is helpful for the analysis of origin point. CASE PRESENTATION: We report a patient with negative P wave in lead I. The characteristics of QRS complex in leads V1 to V6 are helpful to preliminarily differential diagnosis. The 12-lead electrocardiogram (ECG) with correct limb leads (right arm-left arm) placement shows sinus rhythm with complete right bundle branch block (RBBB). CONCLUSIONS: The change of P wave polarity as well as characteristics of QRS complex can help identify limb-lead reversals.

Be prepared for the unexpected: Mind-stretching in ST-elevation myocardial infarction with situs inversus totalis.

Situs inversus totalis is a rare diagnosis, but the likelihood of experiencing myocardial infarction is presumed to be comparable to the general population average. In individuals exhibiting situs inversus with suspected myocardial infarction, ECG recording, including right precordial leads, is crucial for diagnostic assessment. Coronary angiography and intervention should be performed with standard equipment using inverted maneuvers and radiographic projections.

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.

Modified Senning procedure in a patient with dextrocardia with left atrial isomerism and anomalous systemic venous drainage: a rare case report.

The atrial switch procedure by Senning or Mustard technique primarily aims in correcting parallel systemic and pulmonary circulations at atrial level. This procedure may be used in late presenting D-transposition of great arteries with a deconditioned left ventricle, congenitally corrected transposition of great arteries and isolated ventricular inversion. We describe the case of a child with dextrocardia, left atrial isomerism with complex pulmonary and systemic venous drainage resulting in mixing at atrial level. She was successfully operated by modified Senning procedure performed through the left-sided atrium.

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.

Síndrome de Kartagener y artritis reumatoide. Reporte de caso / Kartagener Syndrome and Rheumatoid Arthritis. Case Report

Presentación del caso. Se trata de una mujer de 26 años de edad, en seguimiento por la especialidad de reumatología desde los 17 años, cuando consultó con historia de un año de evolución de síndrome poliarticular de grandes y pequeñas articulaciones, aditivo, simétrico acompañado de fatiga, rigidez matutina mayor de una hora. Se reportó además factor reumatoide positivo. La radiografía de ambas manos presentó erosiones, que confirmó el diagnóstico de artritis reumatoide. Adicionalmente, la paciente tenía el antecedente de procesos sinobronquiales a repetición desde su infancia. En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. Intervención terapéutica. La paciente presentaba actividad clínica severa de la artritis reumatoide, se inició el tratamiento con metotrexato 10 mg vía oral un día a la semana, prednisona 5 mg al día y ácido fólico 5 mg a la semana y citas periódicas, controlando los datos de actividad y efectos adversos de los medicamentos, con pruebas hepáticas, hemograma y transaminasas. La especialidad de neumología recomendó la inclusión de la paciente en un programa de rehabilitación respiratoria, así como el uso de azitromicina 500 mg cada día por tres días en los períodos de agudización. Evolución clínica. El tratamiento logró mantener una actividad leve de la artritis reumatoide y sin exacerbación de los síntomas respiratorios

Case presentation. A 26-year-old woman, under follow-up by the rheumatology specialty since she was 17 years old, when she consulted with a history of one year of evolution of polyarticular disease of large and small joints, additive, symmetrical, accompanied by fatigue and morning stiffness for more than one hour. Positive rheumatoid factor was also reported. Additionally, the patient had a history of repeated sinobronchial processes since childhood. Medical examination revealed sinus pain in the paranasal sinuses, dextrocardia, and bronchiectasis, confirmed by imaging studies, which led to the diagnosis of Kartagener's syndrome. Treatment. The patient presented the severe clinical activity of rheumatoid arthritis. The treatment was started with methotrexate 10 mg orally one day a week, prednisone 5 mg a day, and folic acid 5 mg a week and periodic appointments, controlling the activity data and adverse effects of the drugs, with liver tests, hemogram, and transaminases. The pneumology department recommended the inclusion of the patient in a respiratory rehabilitation program as well as the use of azithromycin 500 mg every day for three days during periods of exacerbation. Outcome. The treatment was successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms

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.