Our study demonstrates that 22q11 microdeletion occurs in 20% of malformations of the outflow tracts and IAA type B, as detected in utero, and that this association is significantly predicted by the presence of associated ultrasound findings: thymic hypo/aplasia, IUGR and additional aortic arch anomalies. The feasibility of a correct prenatal diagnosis should enable clinicians to provide the couple with further informative counselling and to plan adequate post-natal medical interventions.
suMMARY Three patients with ventriculoarterial concordance and an abnormal atrioventricular connexion were investigated. One patient had total anomalous pulmonary venous connexion to a left vertical vein. In 1972 this was repaired and a ventricular septal defect was closed, but the presence of atrioventricular discordance was missed and the patient died. In the other two patients, Mustard's operation resulted in survival. One patient had situs solitus and atrioventricular discordance with an associated ventricular septal defect, which was closed. The other had left isomerism (quasi solitus) with an ambiguous atrioventricular connexion (quasi discordant). A previously noted ventricular septal defect had spontaneously closed.Intra-atrial baffle procedures (venous switches) such as Mustard or Senning operations are normally used to compensate congenitally determined single switches in the circulation. By far the commonest of these is complete transposition, in which the patient has a single switch (ventriculoarterial discordance with atrioventricular concordance). A much rarer indication for venous switching occurs when the single switch is at atrioventricular level and there is no switch at ventriculoarterial level-that is, there is ventriculoarterial concordance. In fact, only eight such operations have been hitherto described. [1][2][3][4][5][6] The purpose of this-report is to document two further examples and to illustrate the danger of an incorrect preoperative diagnosis in a third. 14 November 1984 ial concordance, a ventricular septal defect, and total anomalous pulmonary venous connexion to a left vertical vein. The ventricles were normally related for atrioventricular discordance, but the great arteries were side by side with the aorta to the right.On physical examination, she had moderate cyanosis and finger clubbing. There was clinical hypertrophy of both ventricles and a systolic thrill at the lower left sternal border. On auscultation, the first heart sound was normal, the second heart sound was split, and there was a pansystolic murmur at the lower left sternal border. There was no diastolic murmur and no sign of heart failure. Her chest x ray film showed a large heart with increased pulmonary vascular markings and a wide mediastinum, and her electrocardiogram showed sinus rhythm and right atrial hypertrophy with a PR interval of 0-16 s, a QRS interval of 0-0 s, and a somewhat atypical right bundle branch block pattern.
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