Biomedical subjects
Publications and source records attributed to C Pernot.
We report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.
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Twenty cases of discrete subvalvular aortic stenosis in children aged from 8 months to 23 years were examined by 2-dimensional echocardiography and cineangiography. Fifteen of these patients subsequently underwent open heart surgery to relieve the obstruction. In 18 cases the obstacle was a fixed stenosis (13 type I, 3 type II and 2 type III) and in two cases, the obstacle was provoked by accessory tissues of the anterior mitral leaflet. The echocardiographic incidences used were the left parasternal long axis, the apical LAO-equivalent, and longitudinal and transverse subcostal views. In type I, fixed subvalvular stenosis, one fine abnormal echo was visualised in the left ventricular outflow tract throughout the cardiac cycle immediately below the aortic valve, best seen on apical views. Twelve of the 13 stenoses of this type were demonstrated by 2D echocardiography. In type II stenosis an abnormal thickened echo was visualised in the left ventricular outflow tract at a distance from the aortic cups. The adherence of this abnormal echo to the anterior mitral leaflet was best demonstrated by apical views. All three cases of this type were demonstrated by echocardiography. Type III stenosis was characterised by widespread narrowing of the subaortic region with irregular borders. Obstruction due to accessory tissues of the anterior mitral leaflet were well demonstrated in left parasternal long axis and apical views. They showed an even rounded mass of echos attached to the anterior aspect of the anterior leaflet prolapsing into the left ventricular outflow tract. Both cases in this series were diagnosed by 2D echocardiography. Therefore, 2D echocardiography with apical and subcostal views is a valuable method for diagnosing subvalvular aortic stenosis and for determining its anatomical type.
The ratio of pulmonary/systemic output (QP/QS) was measured by angioscintigraphy in 70 patients from 1 to 22 years of age (average 10 years) admitted to the Department of pediatric cardiology for a left-to-right shunt. Fifty nine of these patients underwent cardiac cathetarisation and QP/QS determination by oxymetry. The correlation between the values of QP/QS calculated by the two techniques was R = 0,83 (p less than 0,001: n = 59); in 28 cases of atrial septal defect R = 0,85; in 20 cases of ventricular septal defect, R = 0,75; in 11 cases of other left-to-right shunts, R = 0,79. No significant shunt was detected in 16 patients by oxymetry and the QP/QS ratio on angioscintigraphy was less than or equal to 1,2 except in 3 cases. In 7 cases of isolated pulmonary stenosis and 4 cases of operated septal defects no shunt could be detected by isotopic investigation. We conclude that angioscintigraphy is a reliable non-invasive method of detection and assessment of left-to-right shunts. In some cases it may avoid the necessity of cardiac catheterisation. The advantages, limitations and applications of this method are discussed.
The innominate vein usually lies superior to the aorta: using a suprasternal approach and an injection of contrast in the left arm, it is the earliest and most cephalad structure to be opacified. The aortic arch, right pulmonary artery and left atrium lie respectively below it. This relationship of these four structures is constant in all arrangements of the great arteries, forming the basis of contrast echocardiographic identification of the great vessels in cases of transposition. A case is reported of an innominate vein, the first structure to be opacified, lying inferior to the aortic arch and above the right pulmonary artery. This anomaly seems to be very rare.
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Chest roentgenograms were carried out in 98 children with atrial septal defects and showed in 71 of them an increase of the pulmonary vascular markings, an increased heart index and right ventricular enlargement. In other children, abnormalities were either incomplete (18 cases) misleading (7 cases) or normal (2 cases). Echocardiogram was characteristic in 34 of 35 children showing an increased telediastolic ratio in virtually all cases and paradoxical septal motion in 79%. Postoperatively, chest roentgenographic findings include a return to normal of pulmonary markings and heart index while right ventricular enlargement regresses only partially. Echocardiograms show a decrease of the telediastolic ratio in all patients and a normal septal motion in 78%.
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The authors present a case of cervical aortic arch which was discovered in a child of 5 years. The association with a diffuse and major vascular dysplasia, mainly neuroectodermic, is worth reporting. Only 40 cases of this abnormality have been published up to now. The anatomic classification of the different types of cervical aortic arch is presented.
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15 cases of persistent truncus arteriosus in infants and children were subjected to roentgenographic examination by the authors via plain frontal and profile roentgenography of the thorax. In infants (12 patients) the left midzone section is concave or straight, especially in the lower part. This aspect is typical of this congenital anomaly if it is associated with active pulmonary hypervascularisation. Cases without pulmonary hypervascularisation are very difficult to diagnose safely. In 7 profile roentgenographs 3 retrosternal enlarged areas were seen soon after birth. In children of 2 to 6 years of age, cardiac dilatation with a right-side aortic arch and pulmonary hypervascularisation are very typical. In children over 6 years of age we observed an Eisenmenger's syndrome with a retrosternal enlarged area. According to the authors' experience, a combination of a right-side aortic arch associated with pulmonary hypervascularisation must be considered highly typical.
Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.
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