1/1288. Variable clinical expression of Holt-Oram syndrome in three generations.Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
2/1288. Impact of rifampin on serum amiodarone concentrations in a patient with congenital heart disease.A 33-year-old woman with congenital heart disease and atrial and ventricular arrhythmias, managed over the long term with an implantable cardioverter defibrillator, epicardial pacing system, and amiodarone, experienced an increase in palpitations and a shock from her defibrillator. Evaluation revealed decreases in amiodarone and desethylamiodarone serum concentrations from previous levels. rifampin had been added to her therapy 5 weeks earlier. Increases in amiodarone and desethylamiodarone concentrations were observed after an increase in the amiodarone dosage and discontinuation of rifampin. The time course suggested that the addition of rifampin led to reductions in serum concentrations of both the drug and metabolite.- - - - - - - - - - ranking = 1.6666666666667keywords = heart (Clic here for more details about this article) |
3/1288. 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 = 0.66666666666667keywords = heart (Clic here for more details about this article) |
4/1288. 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 = 0.66666666666667keywords = heart (Clic here for more details about this article) |
5/1288. 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 = 3.3333333333333keywords = heart (Clic here for more details about this article) |
6/1288. Affair of the heart. Pediatric cardiac homecare.technology has made it possible for children who are born with heart disease and defects to live. Careful home care coordination has made it possible for these children to live at home. For the families involved, that makes all the difference.- - - - - - - - - - ranking = 1.6666666666667keywords = heart (Clic here for more details about this article) |
7/1288. 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 = 1.3333333333333keywords = heart (Clic here for more details about this article) |
8/1288. 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 = 2.3333333333333keywords = heart (Clic here for more details about this article) |
9/1288. 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 = 0.66666666666667keywords = heart (Clic here for more details about this article) |
10/1288. drainage of the inferior vena cava to the left atrium.This report describes a 7-year-old girl with an anomalous connection between the inferior vena cava and the left atrium documented with intraoperative transesophageal color-coded Doppler flow echocardiography and angiography. This rare congenital disorder should be considered in the differential diagnosis in patients with cyanosis without cardiac murmurs. Operation is the only method for correction.- - - - - - - - - - ranking = 0.0049693013666151keywords = murmur (Clic here for more details about this article) |
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