[Use of transthoracic 3D-echocardiography in congenital heart disease]. / Anwendungen der transthorakalen 3D-Echokardiographie bei angeborenen Herzerkrankungen.

3D-echocardiography using a matrix array transducer was performed in 112 patients. In 98 patients (87.5 %) we were able to acquire adequate 3D-data. The mean time for the 3D-examination was 5.5 min. In valve lesions, septal defects and complex cyanotic heart disease 3D-echocardiography was a confident and helpful innovation for better assessment of the intracardiac morphology in pediatric patients. We conclude that 3D-echocardiography is a useful addition to the conventional 2D-echocardiography.

Uncontrolled reoxygenation by initiating cardiopulmonary bypass is associated with higher protein S100 in cyanotic versus acyanotic patients.

BACKGROUND: The systemic reoxygenation injury produced by initiating cardiopulmonary bypass (CPB) in infants with cyanotic heart disease may be associated with cerebral dysfunction and injury. Increased protein S100 (S100) serum levels may indicate cerebral and blood brain barrier damage as well as inflammatory changes, therefore serving to quantify these changes. The present clinical study assessed S100 in cyanotic patients undergoing CPB with normoxic versus hyperoxic paO2 in acyanotic cases and in controls without CPB. METHODS: 43 patients with congenital heart disease aged 5 days to 15 years (mean 4.4 years) were enrolled consecutively and divided in four groups: (1) Cyanotic infants undergoing controlled normoxic reoxygenation on CPB (n = 12), (2) cyanotic infants undergoing uncontrolled hyperoxic reoxygenation on CPB (n = 9), (3) acyanotic infants operated with CPB (n = 16) and (4) patients operated without CPB (n = 6). Blood samples were collected after induction of anesthesia (A), up to 4 hours after surgery (B) and at postoperative day one (C). RESULTS: Preoperative S100 serum levels [microg/l] in all groups were below clinical relevance. S100 increased markedly after surgery in groups 1 and 2. Differences in postoperative S100 levels were significant between groups 1 (0.45 +/- 0.13) and 3 (0.35 +/- 0.09; p = 0.018), between groups 2 (1.41 +/- 0.47) and 3 (p = 0.01), and between groups 2 and 4 (0.29 +/- 0.09; p = 0.045). There were no significant differences in postoperative S100 levels (B) between groups 1 and 2 (p = 0.05), groups 1 and 4 (p = 0.05), or groups 3 and 4 (p = 0.93). CONCLUSION: Uncontrolled hyperoxic reoxygenation on CPB for surgical correction of congenital heart defects is associated with higher S100 levels in cyanotic infants as compared to acyanotic patients undergoing comparable operations.

Progressive cerebral degeneration of childhood with liver disease (Alpers Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation.

A previously healthy and normally developed 17-year-old young female presented with a sudden onset of focal motor seizure status that proved to be refractory to anticonvulsive treatment. Severe encephalopathy with visual impairment leading to blindness, mental deterioration, and predominantly left spastic tetraparesis developed progressively. Hepatic disease evolved 4 months after onset of the first symptoms and led to death in hepatic failure 1 month later. Diagnostic studies revealed an elevated protein and lactate in the cerebrospinal fluid, slow-wave and intermittently continuous spike-wave activity in the EEG, and a complex i.v. (cytochrome-C oxidase) deficiency in the muscle biopsy. MRI scans revealed signal abnormalities in the occipital lobe, thalamus, and basal ganglia only after 3 months. Histopathological findings in liver biopsy and in postmortem brain examination displaying widespread predominantly right cortical spongiosis, neuronal loss and astrocytosis were consistent with the clinically suspected diagnosis of progressive neuronal degeneration of childhood with liver disease (PNDC) or Alpers Huttenlocher disease. This rare disorder of unknown origin is usually seen in infants and young children and is rarely reported in adolescence.

[Rupture of a renal artery aneurysm. Fulminant course, fatal complication of type IV Ehlers-Danlos syndrome in childhood]. / Ruptur eines Nierenarterienaneurysmas. Fulminant verlaufende, letale Komplikation eines Ehlers-Danlos-Syndroms Typ IV im Kindesalter.

A 12 year old girl with joint laxity, hyperelastic and vulnerable skin and tall stature was labeled as "Marfan syndrome". She died unexpectedly from a ruptured aneurysm of the right renal artery. All these features are typical for Ehlers-Danlos syndrome type IV. The diagnostic difficulties and the classification of connective tissue disorders are discussed and further possible complications are reviewed from the literature. The importance of an exact diagnosis is stressed in order to assess the prognosis and start possible therapeutic measures as early as possible.

Lung function in tetralogy of Fallot after intracardiac repair.

Earlier studies have shown significant restrictive lung volume patterns in virtually all patients after shunt palliation and/or subsequent intracardiac repair (ICR) of tetralogy of Fallot. We have studied lung volumes and capacities, maximum voluntary ventilation (MVV), and maximum mid-expiratory flow (MEF[25-75]) at least 1 year after ICR in 123 patients, 91 males and 32 females, which included 54 who underwent primary ICR. All were evaluated by stress testing and 61 were studied serially from two to eight times at 12 to 18 months intervals. In contrast to the previous studies, we found a lower incidence and lesser degrees of restrictive lung volume patterns. Lung volumes may be entirely normal particularly after primary ICR but also when ICR is preceded by shunt palliation. After reoperation for ICR normal lung volumes are uncommon. These is a high correlation between abnormal lung volumes and poor surgical results of ICR as manifested by residual cardiac disease, notably pulmonic valve insufficiency and increased heart size. In primary repair we found no correlation between the presence of abnormal lung volumes and the age at ICR (range 1.87 to 15.4 years). Abnormal lung volumes correlate with reduced exercise performance, but the latter is limited by cardiovascular rather than pulmonary factors. Serial studies show stable lung volume patterns with time, and we found no evidence that the increased level of physical activity usually present after ICR results in increases of lung volumes in excess of those predicted from somatic growth. We conclude that an excellent surgical repair of tetralogy is the best guarantee against a significant restrictive lung volume pattern after repair.

Exercise performance in tetralogy of Fallot after intracardiac repair.

We evaluated 99 male and 36 female patients with tetralogy of Fallot 1 year or more after intracardiac repair (ICR) in 279 exercise studies between 1968 and 1979. Sixty tetralogy patients were studied serially two to nine times at 12 to 18 month intervals. Work performance and heart rate response to cycle exercise with stepwise loading (100 kg-m/min increments) were (1) related to clinical, pre- and post-ICR cardiac catheterization, surgical, and anatomic information and (2) compared to results obtained in 221 male and 157 female normal control volunteers. On the average, male tetralogy patients were shorter and weighed less than control subjects, but female tetralogy patients as a group showed no growth impairment. Many tetralogy patients had slower resting, submaximal, and final exercise heart rates than did control subjects. Work performance averaged 82% +/- 21% of predicted in male patients and 86% +/- 29% in female patients. Serial studies showed no significant changes in work performance in the majority of tetralogy patients for up to 10 years. Best work performance was found in nine varsity athletes (99% +/- 22%) and 21 patients with primar ICR (94% +/- 23%). Statistical analysis demonstrated a significant relationship between reduced work performance and residual disease, notably cardiac enlargement, increased peak systolic right ventricular pressure, pulmonic valve incompetence (PI), residual ventricular septal defect (VSD), pulmonary hypertension, and cardiac rhythm disturbances. However, in individuals work performance cannot be predicted reliably from the presence of these lesions and should therefore be measured. We conclude that exercise testing is a useful adjunct to the clinical and hemodynamic evaluation of post-ICR tetralogy.

Breath-by-breath variation of FRC: effect on VO2 and VCO2 measured at the mouth.

We examined breath-by-breath (B-B) variations of FRC (delta FRC) and their effect on measured O2 and CO2 gas exchange in 52 2- to 4-min segments of continuous air breathing obtained in 29 patients (age range 6--50 yr). Respiratory frequency ranged from 13 to 43 breaths/min, VE from 6.7 to 22.5 l/min (BTPS), and expired VT from 234 to 1,370 ml (BTPS). Computer analysis was based on the following source data measured at the mouth: inspired (VI) and expired (VE) gas flow, FN2, FO2 and FCO2. The analysis provides B-B evaluation of VI, VE, delta FRC in terms of VN2, and VO2 and VCO2 at the mouth and at the alveolar level, i.e., after correction for delta FRC. Significant B-B variations of FRC were found in all studies. delta FRC ranged from +360 to -360 ml (BTPS). For single respiratory cycles VI - VE is primarily a function of N2 exchange at the mouth (VMN2). VO2 and VCO2, uncorrected for delta FRC, are significantly more dispersed about mean values than the corrected gas uptakes (P less than 0.0005). The data support the view that the assumption of VIN2 = VEN2 is invalid for single respiratory cycles. Determination of breath-by-breath VO2 and VCO2 should therefore, not be based on steady-state gas uptake equations. It requires measurement of both inspired and expired breath volumes and evaluation of N2 gas exchange.

[Impedance cardiography, a method to evaluate quantitatively cardiac output? Comparison with the Fick principle (author's transl)]. / Die Impedanzkardiographie als Methode zur quantitativen Bestimmung des Herzzeitvolumens? Vergleichende Messungen mit dem Fickschen Prinzip

In 36 children without shunts nearly 280 electrical impedance measurements were carried out in order to estimate the accuracy of the impedance cardiography as a means of calculating output. During evaluation up to 22 combinations of test conditions and possibilities of evaluation per child were tested. As a reference method the Fick Principle was used. The reproducibility of impedance measurements showed itself to be high, but no agreement of the results by impedance cardigraphy and corresponding values by the Fick method could be found. Some reasons give rise to suppose that impedance cardiography only reflects changes in the intrathoracic fluid level occurring during heart action from which because of formal reasons no interference should be drawn about the original cardiac output. Besides physical arguments tell against the possibility of picking up these volume-changes quantitatively by analyzing transthoracic electrical impedance.