In Sweden, which has a population of 8.9 million people, pediatric heart surgery was previously performed in four cities. After a long, difficult process, centralization of pediatric heart surgery to two centers was achieved in 1993. The overall 30-day mortality for open-heart surgery on infants and children of 9.5% before the centralization (1988-1991) was reduced to 1.9% in 1995-1997. A causal relationship between the mortality rates before and after the centralization is impossible to prove. Heart surgery was concentrated to the two centers with the lowest surgical mortality, and the reduction in surgical mortality was observed over a short period of time which makes it likely that the centralization of the surgical activity promoted the improved results. During the later time period the amount of more complex surgery was clearly increased compared to that performed previously.
A total of 120 healthy infants, children, and teenagers were examined by cross-sectional echocardiography. Right and left atrial and ventricular dimensions and areas were measured in the parasternal, apical, and subcostal views. Dimensions of the inferior caval vein, the pulmonary artery and the aorta were obtained in the parasternal, suprasternal, and subcostal views. Reproducibility was studied in separate material consisting of 19 children with various forms of congenital heart disease examined consecutively by two different observers. Interobserver reproducibility was expressed as the 95% tolerance limit for the difference between two measurements. Good correlation with body surface area was demonstrated for all measurements, and the regression equations for the normal values of the parameters studied are given. Interobserver reproducibility was fairly good for measurements in the parasternal views, but moderate or low for measurements in the apical and the subcostal four-chamber views. Measurements in cross-sectional echocardiography are clinically useful, especially in the study of the right-sided cardiac structures that are difficult to evaluate with M-mode echocardiography, but the problems of reproducibility have to be taken into account.
BackgroundSubtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare.MethodsIn this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k) genome-wide array-based comparative genomic hybridization (CGH).ResultsAfter an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to encompass a 6.48 megabase (Mb) region, ranging from 93.86–100.34 Mb on chromosome 15.ConclusionIn conclusion, we present an additional case to the growing family of reported cases with 15q26-deletion, thoroughly characterized at the molecular cytogenetic level. In the deleted regions, four candidate genes responsible for the phenotype of the patient could be delineated: IGFR1, MEF2A, CHSY1, and TM2D3. Further characterization of additional patients harboring similar 15q-aberrations might hopefully in the future lead to the description of a clear cut clinically recognizable syndrome.
Our objective was to compare the effects of surgical and device closure of atrial septal defects (ASDs) on atrioventricular plane function. In healthy individuals, both short- and long-axis motion contribute to ventricular pump function. Short-axis function (i.e., the amplitude and velocity of atrioventricular plane movements) may be evaluated by M-mode and Doppler tissue imaging. The study group consisted of 19 children with ASD of the secundum type before and after surgical (n = 12) or device (n = 7) closure and 10 healthy controls. Surgical and device closures were uncomplicated and all defects were completely closed. Registrations of atrioventricular plane systolic and diastolic amplitude and velocity were made from the tricuspid and the mitral annulus and from the septum in the apical four-chamber view. Comparisons were made between examinations before and after closure, between the two subgroups of patients treated by surgical and device closure, respectively, and between the patient group and the control groups. Before ASD closure, all measurements were normal or near normal. After surgery, systolic amplitudes and velocities of the tricuspid annulus and in the septum decreased significantly, whereas no changes were seen in the device group. Less marked changes were seen in diastolic measurements. However, in the surgical group significant decrease to subnormal values were found in the tricuspid annulus and in the septum, which may indicate a decreased diastolic function postoperatively. Mitral valve annulus amplitude and velocity were not affected by the treatment. Atrioventricular function is normal in children with right ventricular volume overload. The decrease to subnormal values after open-heart surgery is not seen after device closure of the ASD, indicating that surgery affects right ventricular function.
The data suggest that MR velocity mapping is accurate and precise for measurements of shunt size over the whole range of possible QP/QS values.
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