Kartagener's syndrome: a case report.

BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.

Síndrome PAGOD y anomalías vasculares: ¿es un defecto de la angiogénesis embrionaria? Un nuevo caso y revisión / PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review

El Síndrome PAGOD es un acrónimo de hipoplasia de pulmón y arterias pulmonares, agonadismo, onfalocele / defecto diafragmático y dextrocardia. Se describe una serie de 21 pacientes, en la cual, 90,5 % presentó un cariotipo 46,XY y solo dos casos 46,XX; el 66,6 % exhibió un fenotipo femenino y 28,6 % genitales ambiguos. La ocurrencia de dos paciente 46,XX excluye al cromosoma Y como portador del defecto genético y plantea la posibilidad de una herencia recesiva ligada al cromosoma X, sin descartar que los casos observados en hermanos puedan deberse a mutaciones en otros genes como STRA6, VEGFA, VEGFB, VEGFC, transcritos de empalmes alternativos de VEGFA, HIF1, HIF2, entre otros. Las malformaciones congénitas observadas en los pacientes fueron: genitales y gónadas 85,7 %, diafragma y pared 66,6 %, cardíaco 80,9 %, pulmonar 71,4 %, vascular 80,9 % y abdomen 42,8 %. La revisión de los pacientes ha demostrado un alto grado de variabilidad en la expresividad de malformaciones de órganos, aparatos o sistemas. Las malformaciones vasculares representan un componente importante y característico del síndrome PAGOD y cuya base morfogenética del síndrome pueda deberse a un defecto de la angiogénesis embrionaria temprana con repercusión en la organogénesis de aparatos y sistemas. Dentro de los genes relacionados con el remodelamiento vascular durante la embriogénesis, regeneración tisular y carcinogénesis está el Factor de Crecimiento del Endotelio Vascular D (VEGFD), localizado en Xp22.31, con expresión en pulmón, corazón, intestino delgado, pulmón fetal, útero, mamas, tejido neural y neuroblastoma, el cual representa un fuerte candidato para su análisis molecular como una de las posibles causa del síndrome.

PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.6% exhibited a female phenotype and 28.6% ambiguous genitalia. The occurrence of two patients 46,XX excludes the Y chromosome as a carrier of the genetic defect and raises the possibility of a recessive X-linked inheritance, without ruling out that the observed cases in siblings may be due to mutations in other genes as Stra6, VEGFA, VEGFB, VEGFC, and alternative splicing of transcripts VEGFA, HIF1, HIF2, among others. Congenital malformations were observed in patients’ genitals and gonads 85.7%, 66.6% in diaphragm and abdominal wall , heart 80.9%, 71.4% lungs, blood vessels 80.9% and 42.8% in abdomen. The review of patients has demonstrated a high degree of variability in the expression of malformations of organs and organ systems. Vascular malformations represent an important and characteristic component of PAGOD syndrome and whose base morphogenetic syndrome may be due to a defect in early embryonic angiogenesis with impact on organogenesis and system development. Among genes related to vascular remodeling during embryogenesis, tissue regeneration and carcinogenesis, the Endothelial Growth Factor D Vascular (VEGFD), located in the Xp22.31 region, with expression in lung, heart, small intestine, uterus, breast, neuroblastoma and neural tissue, represents a strong candidate for molecular analysis as a cause of the syndrome.

PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review.

PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.6% exhibited a female phenotype and 28.6% ambiguous genitalia. The occurrence of two patients 46,XX excludes the Y chromosome as a carrier of the genetic defect and raises the possibility of a recessive X-linked inheritance, without ruling out that the observed cases in siblings may be due to mutations in other genes as Stra6, VEGFA, VEGFB, VEGFC, and alternative splicing of transcripts VEGFA, HIF1, HIF2, among others. Congenital malformations were observed in patients' genitals and gonads 85.7%, 66.6% in diaphragm and abdominal wall , heart 80.9%, 71.4% lungs, blood vessels 80.9% and 42.8% in abdomen. The review of patients has demonstrated a high degree of variability in the expression of malformations of organs and organ systems. Vascular malformations represent an important and characteristic component of PAGOD syndrome and whose base morphogenetic syndrome may be due to a defect in early embryonic angiogenesis with impact on organogenesis and system development. Among genes related to vascular remodeling during embryogenesis, tissue regeneration and carcinogenesis, the Endothelial Growth Factor D Vascular (VEGFD), located in the Xp22.31 region, with expression in lung, heart, small intestine, uterus, breast, neuroblastoma and neural tissue, represents a strong candidate for molecular analysis as a cause of the syndrome.

A Temporal Correlation Between Electrocardiogram and Computed Tomography in Acquired Postpneumonectomy Dextrocardia.

Herein, we describe a temporal correlation between the electrocardiographic changes and the chest computed tomographic findings in a 73-year-old woman who underwent a right pneumonectomy (RP) for lung adenocarcinoma.

Mitral valve surgery in a patient with dextrocardia and 180° counter-clockwise rotated heart due to congenital agenesis of the right lung.

We report a case of severe mitral regurgitation (MR) with dextrocardia and 180° counterclockwise rotated situs solitus heart. We describe the technique for mitral valve surgery in a patient with dextrocardia and agenesis of the right lung.

Poland syndrome associated with ipsilateral lipoma and dextrocardia.

A 22-year-old man was admitted with a rapidly enlarging soft mass on the left chest wall, which was diagnosed as lipoma by postoperative pathology. A chest roentgenogram revealed a defect of the fourth rib, scoliosis, dextrocardia, and diaphragmatic hernia. A computed tomographic scan showed maldevelopment of the pectoralis major and minor muscles. This is the first reported case of Poland syndrome with ipsilateral lipoma of the chest wall. Dextrocardia associated with Poland syndrome may be considered dextroposition, rather than a dextroinversion, and it may arise as a result of Poland syndrome.

Combined spontaneous contralateral pneumothorax and post-pneumonectomy mediastinal shift-associated dextrocardia.

We report here on an unusual late postoperative presentation of extreme post-pneumonectomy dextrocardia and spontaneous contralateral pneumothorax presenting as late complications occurring approximately 2 years after right-sided pneumonectomy. Computed tomography is the diagnostic modality of choice to obtain information on anatomical changes within the post-pneumonectomy space. Knowledge of the spectrum of cardiopulmonary, pleural, and other complications after lung resection is important to properly manage complications in post-pneumonectomy patients.

Challenging pacemaker implantation in a patient with acquired dextrocardia after pneumonectomy, skoliosis and complete heart block.

Pacemaker implantation after pneumonectomy is rare and there have been no previously reported cases of acquired dextrocardia after implantation. The authors report the case of a pacemaker implantation in a patient with complete heart block, impaired left ventricular function, sclerosis of heart valves and radiation induced vasculopathy resulting in ostial stenosis of the right coronary artery 30 years after radiochemotherapy in childhood. Acquired dextrocardia after right pneumonectomy for mucoepidermoid carcinoma made implantation a challenge due to and poor fluoroscopic visualization of the heart and increased radio-opacity of the right chest when compared to congenital dextrocardia.

Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.

OBJECTIVE: Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first. METHODS: This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out. RESULTS: We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects. CONCLUSIONS: These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.

Cardiac herniation and volvulus with acquired dextrocardia: echocardiographic diagnosis.

We report an extremely rare cause of elevated jugular venous pulse where two esoteric causes for the same-cardiac volvulus and cardiac herniation have occurred together. Echocardiographic evidence for making the diagnosis of cardiac volvulus--subcostal long axis, subcostal short axis, and suprasternal views--have been presented. Awareness of this complication is necessary as immediate intervention is mandatory for a positive outcome.

[Dextrocardia of post right pneumonectomy]. / Dextrocardie dobândita postpneumectomie dreapta.

The negative pressure achieved in the hemi thorax in the case of lung pneumonectomy has consequences on the mediastinum organ statics. This condition results through the other lung expansion. These changes are common, but rare in adult lung pneumonectomy. In the case of right lung pneumonectomy, the mediastinum moves to the operated part and disturbs the function of the vessels and cavities with thin wall or low pressure (vena cava, right atrium). These aspects are not observed in the case of left lung pneumonectomy. Taking this into consideration the authors present the case of a young woman with right lung pneumonectomy, an intervention made in childhood, at ten years old. After sixteen years of evolution a serious mediastinum re-shuffle was discovered, the heart was moved in the right hemi thorax, with a dextrocardia like aspect. This case is interesting because it raises positive and differential diagnosis problems--dextrocardia, associated disorders, serious complications.

Deviated trachea in hypoplasia and aplasia of the right lung: airway obstruction and its release by aortopexy.

Three cases of male infants with hypoplasia and aplasia of the right lung and dextrocardia are reported. The infants developed increasing obstructive respiratory distress in the first 4 months of life. In all three cases, there was an opaque right hemithorax with overinflation of the left lung, a posterior deviation of the trachea with pulsatile stenosis, and a posteriorly located aortic arch. Hypoplasia (two cases) or aplasia (one case) of the right pulmonary artery and an absence or a remnant of the right main bronchus were also observed. Associated malformations were esophageal atresia with an abnormal high pouch of the proximal esophagus in case 1, and hypertelorismus syndrome in case 2. Because of severe respiratory distress in all three patients, an aortopexy was performed at the ages of 5 months (one infant) and 10 months (two infants). The obstructive respiratory signs disappeared postoperatively in the following weeks. It has been observed that tracheal stenosis in aplasia or hypoplasia of the right lung may be caused by the dislocated aortic arch. An aortopexy can release the airway compression in such cases. Because of associated malformations, a careful evaluation of the airway and vessels is recommended.