1/533. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/533. diagnosis of accessory mitral valve tissue by transesophageal echocardiography.Accessory mitral valve tissue is a rare cause of intracardiac mass and subvalvular left ventricular outflow tract obstruction. The preoperative diagnosis of this congenital anomaly has been facilitated by transthoracic two-dimensional and Doppler echocardiography. However, transthoracic two-dimensional echocardiography cannot identify or correctly diagnose all cases of accessory mitral valve tissue. We report a patient in whom an intracardiac mass detected by transthoracic echocardiography was definitively diagnosed as accessory mitral valve tissue by transesophageal echocardiography.- - - - - - - - - - ranking = 0.39734755262514keywords = valve (Clic here for more details about this article) |
3/533. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
4/533. Damus-Kaye-Stansel connections in children with previously transected pulmonary arteries.BACKGROUND: In patients with a univentricular arteriovenous connection, transection of the main pulmonary artery may be performed as part of a bidirectional cavopulmonary shunt or fontan procedure. The proximal stump of the pulmonary artery may remain in the systemic circulation. In cases with a discordant ventriculoarterial connection, subsequent restriction of the bulboventricular foramen may lead to subaortic stenosis. The subaortic stenosis can be corrected in some patients by directing the systemic flow through a combined nonobstructed aortopulmonary outlet, as in the Damus-Kaye-Stansel connection. Previous closure of the pulmonary artery has been considered by some investigators to be a relative contraindication to the Damus-Kaye-Stansel procedure, unless an allograft root can be added to the circuit after excision of the closed pulmonary stump. methods: Three patients with previously transected pulmonary arteries underwent a modified Damus-Kaye-Stansel connection using the native pulmonary valve and the proximal pulmonary artery stump. RESULTS: The native pulmonary valves have functioned well despite thrombus formation in the proximal stump in 2 patients before Damus conversion. All 3 patients are alive and well after 108, 19, and 3 months, with competent nonobstructed ventriculoarterial connections. CONCLUSIONS: If transection and closure of the pulmonary artery as part of a previous palliation has spared the pulmonary valve, then the native pulmonary outlet might be used for a safe Damus-Kaye-Stansel connection.- - - - - - - - - - ranking = 3.7253047813733keywords = pulmonary valve, valve (Clic here for more details about this article) |
5/533. Fibroelastosis of the posterior urethra associated with urinary, cardiac and digestive anomalies.A case of fibroelastosis of the posterior urethra associated with ectopic opening of the ureter of a solitary kidney in the urethra is described. Oesophageal atresia and anomalous origin of the left coronary artery were also observed. Management of fibroelastosis is pointed out.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
6/533. A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
7/533. Reconstruction of the mitral and aortic annuli for advanced management of the Shone complex.Shone's complex is a congenital cardiac abnormality which consists of surpravalvular mitral ring, parachute mitral valve, subaortic stenosis and aortic coarctation. Initial operative management has traditionally proven difficult, with multiple procedures often necessary to control symptoms. Advanced management had required a careful, individual approach based on both clinical and anatomic patient presentation. We present the first patient in whom mitral and aortic annular reconstruction with bovine pericardial gussets was successful in managing the late sequelae of Shone complex.- - - - - - - - - - ranking = 0.056763936089306keywords = valve (Clic here for more details about this article) |
8/533. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. bardet-biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.- - - - - - - - - - ranking = 2keywords = atresia (Clic here for more details about this article) |
9/533. Combined Rastelli and atrial switch procedure: a 10-year follow-up.We performed a combined atrial (Mustard) and ventricular (Rastelli) repair on a previously palliated patient with situs inversus, atrioventricular discordance, ventricular septal defect, and pulmonary atresia. The suitability and durability of this operative strategy is supported by the satisfactory hemodynamic and functional status of the patient 10 years later.- - - - - - - - - - ranking = 5.2598006146769keywords = pulmonary atresia, atresia (Clic here for more details about this article) |
10/533. Divided right atrium. diagnosis by echocardiography, and considerations on the functional role of the Eustachian valve.A child presented at birth with severe cyanosis. echocardiography showed hypoplasia of the right heart with a right-to-left shunt at atrial level. A conservative approach was adopted initially, and the situation improved over a few months, with reversal of the atrial shunt. Surgery was successfully performed at 4 years of age after further echocardiography revealed a congenitally large Eustachian valve and an atrial septal defect.- - - - - - - - - - ranking = 0.28381968044653keywords = valve (Clic here for more details about this article) |
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