1/981. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = q deletion, deletion, q (Clic here for more details about this article) |
2/981. 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 = 0.011027195457032keywords = q (Clic here for more details about this article) |
3/981. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 1.9632998876865keywords = deletion syndrome, deletion, q (Clic here for more details about this article) |
4/981. prenatal diagnosis of smith-lemli-opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings suggested Smith Lemli Opitz syndrome (SLO), which was confirmed by a markedly increased amniotic fluid level of 7-dehydrocholesterol. We review the differential diagnosis of apparent sex reversal in a fetus and low maternal serum oestriol level. To further examine the specificity of low maternal oestriol level as a marker for SLO a follow-up study of 12141 pregnancies screened for down syndrome using three biochemical markers: alpha-fetoprotein, beta-human chorionic gonadotrophin and oestriol was performed. 26 pregnancies had an oestriol level that was 0.25 MoM or less. SLO was not diagnosed clinically in any of the liveborn children ascertained through a low maternal oestriol level. Nine of the pregnancies ended in spontaneous miscarriage. Although the frequency of SLO in pregnancies with low maternal oestriol levels or sex-reversed fetuses is unknown, the diagnosis of SLO should, nevertheless, be considered in both clinical settings.- - - - - - - - - - ranking = 0.0036757318190108keywords = q (Clic here for more details about this article) |
5/981. catheter ablation in a patient with a congenital giant right atrial diverticulum presented as wolff-parkinson-white syndrome.A young woman symptomatic for tachycardia showed right ventricular preexcitation on the surface ECG with a pattern during induced atrial fibrillation suggestive of multiple APs. Noninvasive imaging techniques performed prior to catheter ablation demonstrated the presence of a giant right atrial diverticulum confirmed by hemodynamic procedure. This structure functioned as an enormous accessory AP. We performed catheter ablation of this pathway using a special 4-mm multipolar catheter inside the diverticulum. This is the first case of such as anomaly being successfully treated with catheter ablation.- - - - - - - - - - ranking = 0.0018378659095054keywords = q (Clic here for more details about this article) |
6/981. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region 8p23.1. To examine whether GATA-4 deficiency is present in patients with monosomy of 8p23.1 with congenital heart disease, we performed fluorescence in situ hybridization (FISH) with a GATA4 probe on cells from a series of patients with interstitial deletion of 8p23.1. Four individuals with del(8)(p23.1) and congenital heart disease were found to be haploinsufficient at the GATA4 locus by FISH. The GATA4 gene was not deleted in a fifth patient with del(8)(p23.1) who lacked cardiac anomalies. FISH analysis on cells from 48 individuals with congenital heart disease and normal karyotypes failed to detect any submicroscopic deletions at the GATA4 locus. We conclude that haploinsufficiency at the GATA4 locus is often seen in patients with del(8)(p23.1) and congenital heart disease. Based on these findings and recent studies showing that haploinsufficiency for other cardiac transcription factor genes (e.g., TBX5, NKX2-5) causes congenital heart disease, we postulate that GATA-4 deficiency may contribute to the phenotype of patients with monosomy of 8p23.1.- - - - - - - - - - ranking = 0.66211826873463keywords = deletion (Clic here for more details about this article) |
7/981. Pediatric transesophageal color flow imaging 1990: the long and short of it.Noninvasive cardiac imaging has dramatically altered the practice of cardiology, specifically, the pediatric patient with congenital heart disease over the past decade. Since the introduction of transesophageal echocardiography nearly 15 years ago, addition of high-resolution cross-sectional imaging combined with Doppler color flow mapping has provided a new window to examine the heart. Recently, miniaturization of the transesophageal probe to "pediatric-size" has enabled its use in the smallest of infants to add significantly to the assessment of congenital heart malformations. Most recently, addition of a longitudinal-plane probe to the already-existent, transverse-plane probe has made biplane transesophageal echocardiography a reality with significant additional information being provided by orthogonal images of the cardiac structures. We used these probes in complementary fashion in 30 studies performed in 23 patients ages 1 day to 12 years with a mean of 35 months, weighing 2.6-40 kg (mean 12.4 kg). These studies were performed in the operating room, intensive care unit, cardiac catheterization laboratory, and outpatient department. Limitations of single-plane, transverse transesophageal echocardiography were overcome using the longitudinal-axis pediatric probe: left and right ventricular outflow tracts, distal pulmonary arteries, and all of the interventricular and atrial septa were easily visualized. Its use in the operating room and postoperative cardiac intensive care unit for continuous ventricular monitoring in otherwise-inaccessible patients also provided critical information. Transesophageal echocardiography in infants and small children is a valuable "noninvasive" imaging technique which, with addition of complementary longitudinal-plane views, offers important additional information regarding congenital heart malformations and their repair.- - - - - - - - - - ranking = 0.0018378659095054keywords = q (Clic here for more details about this article) |
8/981. The physiology of congenital heart disease: assessment by Doppler color flow mapping.The use of Doppler echocardiography is a routine part of the noninvasive assessment of the patient with heart disease. In children with congenital heart disease, pulsed- and continuous-wave Doppler echocardiographic techniques provide accurate, reproducible hemodynamic data relative to structural defects. Doppler color flow imaging, however, allows for qualitative assessment of blood flow patterns, which may give important insights into the changing physiology of the newborn infant or that of a patient in the medical or surgical intensive care settings. Ten cases are presented in which this flow information is instructive in understanding the physiological sequelae of congenital heart disease.- - - - - - - - - - ranking = 0.0055135977285162keywords = q (Clic here for more details about this article) |
9/981. 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 = 0.0018378659095054keywords = q (Clic here for more details about this article) |
10/981. Progressive pulmonary autograft root dilatation and failure after Ross procedure.We present a case of progressive pulmonary autograft root dilatation and subsequent failure after a Ross procedure. The explanted autograft vessel wall revealed striking histologic findings indicative of chronic media rupture. Examination of another explanted pulmonary autograft root showed similar histologic changes, suggesting a common phenomenon in pulmonary autograft roots. It may be the cause of progressive root dilatation as observed after Ross operations.- - - - - - - - - - ranking = 0.0018378659095054keywords = q (Clic here for more details about this article) |
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