Interruption of aortic arch and hypoplastic left heart syndrome.

Interruption of the aortic arch and hypoplastic left heart syndrome in the same patient is exceptional. In the combined collections of the Registry of Cardiovascular Disease (St. Paul, Minnesota, U.S.A.) and the Registry of Congenital Heart Defects of the Rijksuniversiteit Gent (Gent, Belgium) three specimens were found with this unusual combination. These cases are herein described and compared with four similar cases previously reported in the literature.

Hypoplastic left heart syndrome and 45X karyotype.

A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner's syndrome was clinically suspected in three of the cases. One of these had mosaicism (46XX,45X) the others had a 45X pattern. During the same period (1972-85) 39 patients (14 girls and 25 boys) were admitted with diagnosis of hypoplastic left heart syndrome. Three (21.4%) girls had a 45X karyotype. The high incidence of hypoplastic left heart syndrome in Turner's syndrome and of Turner's syndrome in girls with hypoplastic left heart syndrome suggests that hypoplastic left heart syndrome can be another expression of the 45X karyotype.

Captopril in severe childhood hypertension--reversible anaemia with high dosage.

Experience with chronic inhibition of the angiotensin-converting enzyme in children is limited to cases refractory to all other forms of treatment. In reports dealing with the use of captopril (Capoten-R) in children no important side-effects are mentioned. This report describes a 7-year-old boy with severe hypertension secondary to haemolytic uraemic syndrome. Good pressure control was obtained after introduction of captopril. However, under the high initial dosage, pronounced anaemia developed within the first 3 months of treatment. The anaemia responded to dose-reduction while pressure control was maintained. Serial echocardiographic studies were performed. They illustrate the beneficial haemodynamic effects of captopril in the follow-up of children under antihypertensive treatment. Some recommendations are made on the use of captopril in children.

Comparative study in angiocardiography in children, evaluating the side-effects of non-ionic and ionic contrast media.

The study concerns 127 consecutive patients, presenting congenital heart disease, with an age distribution from neonatal to 15 years (mean 5 years). With non-ionic Amipaque, 164 injections were performed, with ionic Isopaque Coronar 81. Isopaque Coronar caused in 51% of the cases a clear discomfort for the patient; with Amipaque the side-effects were reduced to 9% (p less than 0.001). The mean body temperature rise with Amipaque was only 0.09 degrees C, against 0.28 degrees C with Isopaque Coronar (p less than 0.001). The changes in the heart rate reached 8.35% with Amipaque and 15.2% with Isopaque Coronar (p less than 0.001). Amipaque caused a mean of 1.8 extrasystoles per injection; Isopaque Coronar 2.2 (p less than 0.05). The quality of the angiogram with Amipaque was quite better than with Isopaque Coronar (p less than 0.0025). The non-ionic Amipaque is a much safer and better tolerated compound that the ionic Isopaque Coronar for paediatric angiocardiography.

Surgery for arteriovenous fistulas and dilated vessels in the right lung after the Glenn procedure.

A superior vena cava-right pulmonary artery (SVC-RPA) anastomosis was constructed in a 2-year-old boy with tetralogy of Fallot. Ten years later and 5 years after "corrective" surgery without removal of the shunt, cyanosis and heart failure developed. Stereocineangiography and lung scanning revealed arteriovenous fistulas and dilated vessels in the right lung. The SVC-RPA anastomosis was taken down, the SVC being reimplanted in the right atrium and the RPA end being closed with a few stitches. Neither lobectomy nor pneumonectomy was performed. Immediately after the operation and during a follow-up period of almost 2 years, the boy has remained asymptomatic. Whenever a correction is planned in a patient with SVC-RPA anastomosis, the vessels of the right lung should be examined by scanning and angiography. If important arteriovenous fistulas do exist, the affected lung should be excluded from the pulmonary artery circulation.

A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16-like chromosome, which on the basis of the G, R, Q and Giemsa-11-banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX, +i (9) (pter leads to cen leads to pter)). The patient consequently had a partial tetrasomy of the short arm of chromosome 9.