No abstract

SUMMARYPartial anomalous pulmonary venous return (PAPVR) is a congenital anomaly in which one or more, but not all, of the pulmonary veins are connected to a systemic vein or to the right atrium directly. Its incidence is higher in autopsy series than in clinical series.We report 51 cases of PAPVR diagnosed by cardiac catheterization and evaluated from the aspects of age, sex, type and associated anomalies and diseases. (Jpn HeartJ 35: 43-50,1994) Key words: Partial anomalous pulmonary venous return Associated anomalies BNORMALITIES of the pulmonary venous system are not common, although their real frequency is probably greater than that deduced from clinical and autopsy studies.1) The first reported case of anomalous pulmonary venous connection was by Winslow in 1739. In 1942, Brody published a series of 106 cases.2-5) In anatomic terms, the pulmonary venous anomalies may be classified as anomalous connections, stenotic connections and abnormal numbers of pulmonary veins.1) Our subject is "Partial anomalous pulmonary venous return" defined as one or more, but not all, of the pulmonary veins being connected to the right atrium or to one or more of its tributaries. We studied 51 cases of PAPVR admitted to Hacettepe University Pediatric Cardiology Unit between 1972-1991 and diagnosed by cardiac catheterization. All patients were evaluated on the basis of age, sex, type of venous return and associated anomalies and diseases. MATERIAL AND METHODSFifty-one patients with PAPVR diagnosed by cardiac catheterization at the Hacettepe University Pediatric Cardiology Unit between 1972 and 1991 were From the

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 1 1 ⁄2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, sarcoglycan deficiency 2, sarcoglycan deficiency 7, sarcoglycan deficiency 5, sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans.sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary sarcoglycan deficiency showed normal or only mildly abnormal sarcoglycan staining.

SUMMARYThe purpose of this study was to determine the differences in the left ventricular dimensions, mass index and function in school-aged swimmers by echocardiography. The study group consisted of 82 swimmers who participated in a systematic swimming training for at least six months, and the control group consisted of 41 sedentary children of similar age, sex and weight. In the study group, left ventricular dimensions and wall thicknesses, aortic root and left atrium diameters, and left ventricle mass index were significantly greater than the normal children (p<0.05). However, there was no difference in the left ventricular systolic function (ejection fraction, shortening fraction) or in the left ventricular filling characteristics (p>0.05).In conclusion, in childhood swimmers there was a significant increase in left ventricular dimensions, wall thicknesses and mass index, but no differences in the systolic function and filling characteristics of the left ventricle. Thus, information on endurance training participation is necessary to interpret quantitative echocardiographic data. (Jpn Heart J 35: 295-300, 1994) Key words: Left ventricular dimension Diastolic function Training Swimming Children SCENT studies of the physiologic effects of exercise training indicate important differences between endurance athletes and untrained normal subjects. One of the more noticeable differences in endurance athletes is an increase in heart size.1-4) However children, particularly of elementary school age , are rarely classified as athletes.2)Although there are many reports on echocardiographic changes in adult athletes,1,3-7) the number of studies on school-aged athletes is relatively few . The

Head-up tilt testing with or without isoproterenol is extensively used in the evaluation of patients with unexplained syncope. However, sensitivity and specificity of tilt protocols with and without isoproterenol have not been clarified in children, due to lack of age matched control subjects. This study was designed to assess and to compare the sensitivity and specificity of tilting alone and tilting in conjunction with isoproterenol. Thirty children with unexplained syncope (group I) and 15 age-matched control subjects (control group I) underwent successive 60 degrees head-up tilts for 10 minutes during infusions of 0.02, 0.04, and 0.06 microgram/kg/min of isoproterenol, after a baseline tilt to 60 degrees for 25 minutes. Also, 35 children (group II) with unexplained syncope and 15 healthy control subjects (control group II) were evaluated by head-up tilt to 60 degrees for 45 minutes without an infusion of isoproterenol. In response to tilt protocol with graded isoproterenol, 23 (76.6%) of the patients in group I and 2 of the 15 (13.3%) control subjects developed syncope. Accordingly, the sensitivity of tilt testing with isoproterenol was 76.6%, and its specificity was 86.7%. Tilt testing without isoproterenol was positive in 17 (48.5%) of the patients in group II but in only 1 of the 15 (6.6%) control subjects. Thus, sensitivity and specificity of tilt testing without isoproterenol were 48.5% and 93.4%, respectively. The mean heart rate and systolic blood pressure decreased significantly (P < 0.001) in all tilt positive patients during syncope. In conclusion, the head-up tilt test is a valuable diagnostic test in the evaluation of children with unexplained syncope, and isoproterenol is likely to increase the sensitivity of the test without decreasing its specificity.