Leena Tuuteri

Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle

We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak, type 2 muscle fibers were almost universally atrophic and had tubular aggregates. Gyrate atrophy is the first disease in which females are shown to have tubular aggregates; the sexes were affected equally. In gyrate atrophy the number of type 2 fibers decreases with age. The muscle and eye changes are probably related to abnormal creatine synthesis, caused, in gyrate atrophy, by the increased body pool of ornithine; muscle abnormalities may also be present in other tapetoretinal dystrophies.

30. Vascular Complications in Coarctation of the Aorta

Cardiac catheterization and determination of the ))true endogenous creatinine clearance, and para-amino-hippuric acid clearance were carried out pre-operatively on 20 children with patent ductus arteriosus. A decreased renal plasma flow was demonstrated in children with a big shunt through the patent ductus. The ratio of endogenous creatinine clearance to renal plasma flow was increased if the left-to-right shunt was above 40 per cent, even in the presence of a normal pressure in the pulmonary artery.

CAUSES OF DEATH IN TRANSPOSITION OF THE GREAT ARTERIES

ABSTRACT: Landtman, B., Louhimo, I., Rapola, J. and Tuuteri, Leena. (The Childrens Hospital, University of Helsinki, Helsinki, Finland.) Causes of death in transposition of the great arteries. A clinical and autopsy study of 140 cases. Acta Paediatr Scand, 64: 785, 1975.–The causes of death were assessed in 140 infants and children with transposition of the great arteries studied clinically and post mortem. Half of the children were under one month old. Death occurred during the first year of life in 118 cases. Balloon atrial septostomy and/or cardiac surgery were performed in 37 cases, and 7 patients died following operations for extracardiac malformations. Congestive heart failure was the most common single cause of death, occurring in 109 cases. All but 7 patients were cyanotic. Extracardiac malformations were encountered in 39 patients and were considered a main cause of death in 22 of these. Various infections, mostly pneumonia, occurred in half of the cases. Forty‐one patients had vascular accidents in various organs. These complications were more common in operated than in nonoperated cases. Miscellaneous causes of death, including hyaline membrane disease and/or pulmonary atelectases, occurred in 30 patients. The study illustrated the complex symptomatology and therapeutic problems presented by critically ill infants with transposition of the great arteries.

33. NATURAL HISTORY OF CONGENITAL AORTIC STENOSIS

Swan et al. (l) , while the L-R shunt curves were analyzed as described by Mook and Ziljstra (2) by the monoexponential extrapolation of the downslope both of the primary and the shunt curves. The shunt flow expressed as a fraction of aortic or pulmonary blood flow was then calculated. These values were compared with those obtained by the reference method. The use of the forward triangle method was limited to shunts below 60 per cent of cardiac output because of the poor delineation of the peak of the primary curve at higher shunt fractions. The results obtained from the thermodilution curves were correlated to the reference values with a high degree of statistical significance. The methodological error, however, was large for both types of shunts, being higher for the L-R than for the R-L shunts. The magnitude of the R-L shunts was also calculated from blood gas data. The results obtained by the thermodilution method were significantly better correlated to the reference values than those calculated from the blood gas equation. It is concluded that the graphical analysis of thermodilution curves allows the estimation of the magnitude of intra-cardiac shunts. Great caution must however be exercised in the interpretation of such data because of considerable methodological errors.

Patent Ductus Arteriosus Associated with Pulmonary Hypertension

Pre‐ and postoperative hemodynamic and electrocardiographic studies were carried out in 24 children with patent ductus arteriosus and pulmonary hypertension. The age of the patients ranged from 10 months to 14 years. All patients were catheterized before and a t least once after the operation. I n all cases a left to right shunt was present. Prior to operation the pulmonary arterial pressure was 50 mm Hg or more. The follow‐up time ranged from 6 months to 4½ years.

Patent Ductus Arteriosus with Pulmonary Hypertension. Effect of Surgical Closure of the Duct on the Pulmonary Vascular Dynamics

intimal fibrotic hyperplasia of the coronary arteries with a varying degree of narrowing of the vessel lumen was found in every case (Fig. 1 ) . The pathogenetic consequences of these coronary changes remains, however, obscure. The degeneration of the myocardium and of certain nervous tissue as well is suggested to be result of a single genetic defect. Friedreich’s syndrome is proposed as a more suitable name for this complex disease. R E F E R E N C E S

Intermittent Disappearance of the Continuous Murmur of Patent Ductus Arteriosus

Spontaneous disappearance and subsequent return of the continuous murmur of an isolated patent ductus arteriosus unassociated with pulmonary hypertension is a rare phenomenon. I n 1960, Shapiro and his associates [3] made this observation in a 9-year-old girl with patent ductus arteriosus and they stated that the phenomenon had not, to their knowledge, been previously described. One similar case has subsequently been reported by Keith & Sagarminaga [l]. We recently had the opportunity of studying a child with patent ductus arteriosus in whom, for no apparent reason, intermittent disappearance of the continuous murmur occurred.