[Frequency of the association of cardiac and urinary malformations].
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Biomedical subjects
Publications and source records attributed to A M Worms.
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In 680 cases of congenital heart disease, the authors discovered 49 uropathies (i.e. 7.2%) diagnosed thanks to a film of the urinary apparatus taken during angiocardiography. These uropathies were encountered mainly during ventricular septal defects, pulmonary stenosis and Fallot's tetralogy. The diagnostic value of the film during angiocardiography is great as it revealed 22 out of 49 uropathies (i.e. 44.9%) clinically silent until then.
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A case of esophageal stenosis and tracheo-esophageal fistula associated with dextrocardia due to dextrorotation, ventricular septal defect and complete double arotic arch is reported. In 116 cases of esophageal atresia and tracheo-esophageal fistula 9 had an associated cardiac malformation (4 right-sided aortic arch and 4 ventricular septal defects). The possible individualization of multiple abnormality syndromes in which these two types of malformations are associated with others such as vertebral arch defects, limb anomalies, imperforate anus, etc. is discussed. These are so-called "Vater" or "Vactel" syndromes.
This joint work has studied the cardiomyopathies occurring in hereditary neuro-muscular disorders (270 cases). The Duchenne type of disorder (74 cases) was responsible for asystole (4 cases), for cardiomegaly, and especially for abnormalities of the ECG (59 cases)--Q waves and large R waves in V1 and V6. The cardiomyopathy was of the hypokinetic type, with histological evidence of degeneration of the myocardial fibres. Dystrophia myotonica of Steinart (23 cases) caused conductive disorders (17 cases) which were either atrioventricular or intra-ventricular or both. Studies of the His pathway confirmed that these abnormalities were more diffuse in 5 cases. The main histological feature was interstitial fibrosis. There was a high risk of sudden death; ECG follow-up should be close. Friedreich's disease (20 cases) in its complete form led to later development of obstructive cardiomyopathy, with a systolic ejection murmur, cardiomegaly, and abnormalities of the ECG--left ventricular hypertrophy in the vertical axis, right ventricular and septal hypertrophy, repolarisation disorders similar to those found in coronary artery disease. Histology showed hypertrophy with degeneration of the myocardial fibres and interstitial fibrosis. This complete form was rare (7 cases out of 20); on the other hand, ECG abnormalites were very common (16 cases out of 20). The authors have tried to study the relationships between primary cardiomyopathies (50 cases) and peripheral neuromuscular disorders. 17 of the 39 peripheral muscle biopsies were abnormal, but a well-defined muscular dystrophy could not be found in them.
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Exercise tests can be carried out without risk in a child or young adult with asymptomatic congenital aortic stenosis. In such a case, the ECG at rest gives only a very poor indication of the severity of the stenosis, which often becomes worse with age. The only sinister findings is that of repolarisation defects, which are almost always absent at rest. Exercise, by causing an imbalance between myocardial oxygen consumption and oxygen transport, will cause "ischaemic" signs to appear on the ECG. At the same time, the absence of compensation of pressure is a very important sign of poor tolerance; the test can usefully be concluded by using a floating catheter to measure the pulmonary capillary pressure. The correlation between a positive test and the stenotic pressure gradient, measured on catheterisation at rest, is good; but "negative" tests may be found in certain cases with a tight stenosis, especially if maximal rate could not be reached. In cases of stenoses which were initially mild or moderate, this test is very useful as a follow-up procedure, as such stenoses may become worse with age and require surgical correction. It is also useful for assessing the results of surgery, and of rehabilitation.
Congenital aortic stenosis presenting in the neonate must be distinguished from the commoner hypoplastic left heart-syndrome, which is beyond surgical correction. It is certainly a serious problem, but early diagnosis and supporting angiography to rule out the presence of an associated left ventricular malformation and to check the volume of the left ventricular cavity should lead to a decision to operate. Out a 4 neonates from this series who were presented for surgery, the 2 survivors had good long-term results.
Certain pulmonary stenoses differ markedly from the usual types of isolated valvular stenosis in their clinical features (maximal murmur situated lower down), their radiological signs (absence of a prominent median arc), the electrocardiograph (atypical electrical axis), the haemodynamic findings (usually a poor gradient), and especially the angiocardiography (valvular dysplasia, lack of a post-stenotic dilatation). They are encountered especially in the multiple malformations, as shown by this series of 23 cases comprising the syndrome of Noonan (9), of Gorlin or 'leopard' (7), of Watson or 'café-au-lait spots' (3), or those defying classification, but always having a disorder of facial structure and mental deficiency, sometimes with deafness (4). The frequent finding of a gradually progressive hypertrophic cardiomyopathy is a feature of these syndromes, and usually accounts for the abnormal ECG findings. It leads to a discussion of the pathogenesis, and of the place of these syndromes in a wider context, alongside the phacomatoses and the hereditary forms of neuromuscular degeneration.
Azygos prolongation of the inferior vena cava is a congenital abnormality which is normally associated with a congenital cardiac lesion, abnormalities of the inferior caval system and, in some instances, abdominal heterotaxia. The authors report here a case which is exceptional in the sense that the azygos prolongation was isolated. Further radiological studies are essential in order to make the diagnosis following the discovery of a right-sided laterotracheal opacity on a plain chest film. Only five other cases were found in the literature.
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Poorly tolerated solitary ASD in the baby is rare. The main criteria for diagnosis have been drawn from a series of 9 cases. The symptoms are often atypical, especially at first: usually a marked pansystolic murmur, a tricuspid flow murmur, late appearance of a doubling of B2, and a non-specific cardiac outline, except for the cardiac enlargement and the increased pulmonary vascularity. The ECG is rather more helpful, with constant RVH. At catheterisation, there is a major left-to-right shunt, the pressures in the right and left atria are equal, and pulmonary hypertension is rare. It is particularly common to find associated extra-cardiac abnormalities. Under medical treatment the prognosis is good, and early surgical closure is not normally required.