Objective-To obtain normal M mode (one dimensional) echocardiographic values in a substantial sample of normal infants and children. Design-Data were obtained over three years from a single centre in central Europe. Patients-2036 healthy infants and children aged one day to 18 years. Methods-In line with recommendations for standardising measurements from M mode echocardiograms, and using digital echocardiographic equipment, measurements were obtained of the following: right ventricular anterior wall thickness at end diastole, right ventricular end diastolic dimension, thickness of interventricular septum at end diastole and end systole, thickness of posterior wall of the left ventricle at end diastole and end systole, left ventricular dimension at end diastole and end systole, pulmonary and aortic valve diameter, and left atrial dimension. Results-Measurements are presented graphically on centile charts with respect to body surface area, and as tables with mean and 2 SD values for newborns in relation to body weight, and for infants and children in relation to body surface area. Best fitting regression equations are given for each measured variable, using the 50th centile values. Conclusion-In comparison with previously published normal values, the presented charts and tables make it possible to judge echocardiographic measurements of a particular patient as normal or abnormal. (Heart 2000;83:667-672)

Aortic and mitral regurgitation are more frequent in patients with MPS than previously thought and that therefore these patients should have regular colour Doppler flow mapping and antibiotic prophylaxis when required.

Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features. The patients were from genetic counseling (n = 15) or fetopathology (n = 3) of the Clinical Genetics Department in Marburg and from the Pediatric Cardiology Department (n = 22) in Mainz. Monosomy 22q11 was detected in 9 cases (= 22.5%). Familial transmission with one mildly affected parent and one affected sib each was proven in two cases. The CCVDs comprised complex conotruncal defects such as tetralogy of Fallot, double outlet right ventricle, transposition of great arteries and truncus arteriosus communis, or anomalies of the derivatives of the branchial arch arteries in association with a ventricular septal defect, including one case of atresia of the ductus arteriosus with pulmonary artery aneurysm and resulting in fetal hydrops. All 13 patients with a deletion of 22q11 showed at least one additional CATCH symptom. Most consistently, facial dysmorphy was apparent (92%), while hypocalcemia, mostly at threshold values, was present in 62% and thymic hypoplasia including borderline low T-lymphocyte numbers was observed in 41%. None of the patients presented with a cleft palate. A high intrafamilial variability in expression was also evident with respect to the CCVD. Our findings indicate that seemingly isolated complex cardiovascular defects associated with a 22q11 microdeletion most probably do not represent a distinct subgroup within the CATCH-22 complex but are syndromal in nature with extracardiac features that are often overlooked.

Continuous measurement of cardiac output by the Fick principle offers a convenient method for the hemodynamic monitoring of unstable infants and children.

We conclude that the correlation between 1/PAT and systolic blood pressure is not strong enough to serve as a marker for blood pressure changes in critically ill infants and children. This may be due to changes of the preejection period, which is part of the PAT.