1/16. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. The deletion within the chromosome region of 22q11 may occur in patients with three well-described dysmorphologic cardiological syndromes: digeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). We report in detail seven infants with a deletion of the locus 22q11 showing overlapping clinical features of DGS and CTAFS with complex congenital heart defects (double outlet right ventricle, atresia or stenosis of the pulmonary valve, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of fallot, major aortopulmonary collateral arteries, arcus aortae dexter, and persistence of the left superior vena cava). A homograft was implanted between the right ventricle and the main stem of the pulmonary artery in 2 patients, while a balloon valvuloplastic of the pulmonary valve was performed in one patient only. Pulmonary hemorrhage, acute hypoxia, and aspergillus pneumonia were the complications. death occurred in three out of seven patients. Recent advancements in the genetic knowledge of the locus 22q11 are described. Since the locus 22q11 is highly heterogeneous, the CATCH 22 acronym should be used and temporarily the old eponyms should be abandoned waiting for the identification of the different genes.- - - - - - - - - - ranking = 1keywords = pulmonary valve, atresia, valve (Clic here for more details about this article) |
2/16. Stenting of stenosed aortopulmonary collaterals and shunts for palliation of pulmonary atresia/ventricular septal defect.patients with unrepaired pulmonary artery atresia and ventricular septal defect (PA/VSD) depend on aortoplumonary collaterals and surgically created shunts for pulmonary blood flow. These vessels frequently develop stenoses with time, leading to hypoperfusion of lung segments and systemic hypoxemia. The purpose of this article is to describe catheter palliation of hypoxemic patients with PA/VSD who were not candidates for surgical repair. We present our experience with stent implantation for stenosis of aortopulmonary collaterals and shunts in these patients. Three patients with hypoplastic pulmonary arteries underwent stent placement in aortopulmonary collateral arteries (APCAs) or their shunts. Technical aspects of the interventional catheterization procedure are discussed in detail. Case 1 underwent placement of five stents in collateral vessels and one stent in the Blalock-Taussig shunt (BT) with dramatic increase in vessel size and improvement in saturations from 70% to 89%. Case 2 underwent placement of two overlapping stents in a collateral vessel with an increase in diameter of the collateral vessel from 2.3 to 6 mm and an improvement in saturation from 68% to 88%. Case 3 underwent placement of three overlapping stents in a BT shunt with an increase in diameter of the shunt from 2.2 to 6.6 mm and an improvement in saturation from 71% to 89%. All three patients had excellent clinical improvement and stable saturation at follow-up. Stent placement for maintaining patency of APCAs and aortopulmonary shunts is feasible and safe.- - - - - - - - - - ranking = 7.6070667892027keywords = pulmonary atresia, atresia (Clic here for more details about this article) |
3/16. A rare form of interrupted aortic arch.We report the case of a newborn with digeorge syndrome and aortic atresia associated with a complex anomaly of the aortic arch, interpreted as interrupted aortic arch type C, a persistent right ventral aorta and an aberrant right innominate artery. At 8 months the child underwent Norwood palliation with interposition of an 8 mm PTFE tube between the pulmonary trunk and the descending aorta and of a 3.5 mm shunt between the junction of the right ventral aorta to the left carotid artery and the right pulmonary artery. At 11 months he had substitution of the PTFE tube and bidirectional cavopulmonary anastomosis; he is now waiting for biventricular correction.- - - - - - - - - - ranking = 0.25910450724785keywords = atresia (Clic here for more details about this article) |
4/16. tetralogy of fallot with aortic valvular stenosis: surgical correction in one case.We report a case of an infant presenting with the rare association of tetralogy of fallot, hypoplasia of the pulmonary arteries, and stenotic bicuspid aortic valve. Surgical correction, performed at 16 months of age, included aortic valvular commissurotomy, opening the right ventricular outflow tract (transannular patch), and ventricular septal defect closure. The postoperative course was favorable, and the child was discharged from the hospital. Three months after the procedure, the patient is in excellent condition, without cardiac medication.- - - - - - - - - - ranking = 0.0021024038233757keywords = valve (Clic here for more details about this article) |
5/16. esophageal atresia and tracheo-esophageal fistula in a patient with digeorge syndrome.digeorge syndrome (DGS) is a congenital disorder that affects the thymus, parathyroid glands, and heart and brain. Thymus involvement in DGS may vary between absence/hypoplasia of thymus to various forms of reduced T cell function. TBX1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development, specifically, formation and growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septation, and conal alignment. Here the authors describe a case of DGS presenting with severe combined immunodeficiency, esophageal atresia, and tracheoesophageal fistula (TEF). DGS is an important differential diagnosis in TEF.- - - - - - - - - - ranking = 1.2955225362393keywords = atresia (Clic here for more details about this article) |
6/16. Laryngeal atresia sequence as part of the DiGeorge developmental field defect.The subject of the present report is a male newborn with laryngeal atresia (LA) type I, giving rise to a malformation sequence consisting of overdistended polyalveolar lungs and nonimmune fetal hydrops with massive ascites. The infant was chromosomally normal and the first child of consanguineous parents. Retention of liquid secreted by the fetal lungs in utero was the pathogenetic mechanism, responsible for the LA sequence. The LA was part of a complex constellation of anomalies, compatible with the DiGeorge developmental field defect.- - - - - - - - - - ranking = 1.2955225362393keywords = atresia (Clic here for more details about this article) |
7/16. Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the "classical" presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.- - - - - - - - - - ranking = 0.25910450724785keywords = atresia (Clic here for more details about this article) |
8/16. DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction.A term white girl presented with low birth weight, minor anomalies, and congenital heart defects. The infant had microcephaly, upslanting palpebral fissures, prominent nasal bridge, short philtrum, thin upper lip vermilion, down-turned corners of the mouth, receding mandible, and short broad neck. The hands showed proximal placement of the thumbs, bilateral clinodactyly of the index finger, and bilateral transverse crease. Both hands were clenched, with the index finger overlapping the third finger and the fifth finger overlapping the fourth. There was also talipes calcaneo-valgus, bilateral dorsiflexion of the metatarsophalangeal joints, flexion of the interphalangeal joints, and hypoplasia of all nails. The patient's karyotype was 46,XX,-22, der(9)t(9;22)(q21.13;q12.1)mat; the mother had the balanced translocation 46,XX,t(9;22)(9pter 9q21.13::22q12.1 22qter ;22pter 22q12.1::9q21.3 9qter). The infant died at age 10 days, and the autopsy showed absent thyroid isthmus and rudimentary thymus, with one small ectopic parathyroid attached to it. The lungs were hypoplastic, with abnormal lobation. The cardiac anomalies included truncus arteriosus, truncal valve stenosis, single carotid trunk, subclavian arteries arising from the distal part of the aortic arch, atrial and ventricular septal defects, right ventricular hypertrophy, and a hypoplastic left pulmonary artery. Also, multiple small accessory spleens were present in addition to a normal-sized spleen. This case combines features associated with DiGeorge anomaly and dup(9p). The chromosome abnormality in this patient appears to have arisen in a maternal germ cell due to adjacent type II disjunction.- - - - - - - - - - ranking = 0.0021024038233757keywords = valve (Clic here for more details about this article) |
9/16. Absence of the leaflets of the aortic valve in digeorge syndrome.A newborn infant is described with complete absence of the leaflets of the aortic valve, interruption of the aortic arch and digeorge syndrome. This association has not previously been reported, nor has absence of the leaflets of the aortic valve without other features of left ventricular dysplasia. We discuss the possible influence of severe intra-uterine aortic regurgitation on development of the aortic arch.- - - - - - - - - - ranking = 0.012614422940254keywords = valve (Clic here for more details about this article) |
10/16. Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.A female infant was born at term with congenital anomalies and a deletion of the short arm of chromosome 5. The anomalies included thymic dysplasia and lymphocyte-depleted nodes of the type seen in combined immune deficiency; atrial and ventricular septal defects, pulmonary valve atresia, and anomalous pulmonary-bronchial communication through the lungs; and shortness of forearms with syndactyly of fingers. A review indicates that the association of cardiac lesions, thymic dysplasia, oligosyndactyly and deletion of chromosome 5p is unique.- - - - - - - - - - ranking = 0.62955225362393keywords = pulmonary valve, atresia, valve (Clic here for more details about this article) |
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