This study demonstrates the advantage of closing the zone of apposition ('cleft') as part of repair of complete atrioventricular septal defect. Survival, freedom from reoperation for left atrioventricular valve incompetence and over-all outcome were more favourable in patients of group II. The zone of apposition should be surgically addressed whenever the morphology of the left atrioventricular valve allows for closure without producing stenosis.
In our opinion, Cook detachable coils are safe and effective especially in the treatment of persistent ductus arteriosus with a diameter < or = 2.5 mm. Due to the low costs these coils appear to be superior to other devices in this subgroup of patients.
The effects of persisting right ventricular myocardial sinusoids on left ventricular global and regional function were studied in 13 patients with pulmonary atresia and intact ventricular septum. Persisting myocardial sinusoids allow the inflow of undersaturated blood into the coronary circulation with subsequent myocardial ischaemia. 7 patients had myocardial sinusoids (group 1). 6 patients had normal coronary perfusion (group 2) The measures of global left ventricular function (ejection fraction, left ventricular enddiastolic volume, left ventricular enddiastolic pressure and shape index) showed no differences between the groups. All patients in group 1 showed disturbances of regional wall motion (P less than or equal to 0.005). There was a high degree of coincidence between the disturbances of regional wall motion and the topography of myocardial perfusion from persisting myocardial sinusoids. In group 1 apical hypokinesia was a regular finding, reflected by a significantly reduced shortening of the left ventricular long axis (P less than or equal to 0.01). As all of these patients had communications between the myocardial sinusoids and the left anterior descending coronary artery, this probably resulted from apical left ventricular ischaemia.
We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.
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