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Between two and six of every thousand babies born alive have a ventricular septal defect (VSD) and overall just under 90% survive to young adult life. Other cardiac malformations such as infundibular pulmonary stenosis, persistent ductus arteriosus, and coarctation of the aorta may be associated with VSD but there has been no large prospective series of patients studied with modern ultrasound technology including Doppler colour flow mapping. Now such a series has been reported from Stirling, Scotland (
The study included 1448 patients with congenital VSD identified between 1991 and 1998 most of them at a paediatric cardiology centre and some (probably about a third) from a congenital heart disease clinic for adults. Patients with conotruncal abnormalities (transposition of the great arteries, tetralogy of Fallot, persistent truncus arteriosus or double outlet right ventricle), univentricular heart, or atrioventricular septal defects, were excluded. Overall, the most common associated cardiac abnormalities were infundibular pulmonary stenosis (5.8%), aortic prolapse (3.6%), pulmonary valvar stenosis (2.7%), ostium secundum atrial septal defect (2.2%), persistent ductus arteriosus (1.9%), and coarctation of the aorta (1.5%). Because the adult group had often had previous surgery or percutaneous intervention certain abnormalities were less prevalent in the adult than the paediatric group (ostium secundum ASD 1.5% vs 2.8%, persistent ductus arteriosus 0.5% vs 2.9%, coarctation of the aorta 0.3% vs 2.4%). Aortic valve prolapse (6.7% vs 1.3%) and infundibular pulmonary stenosis (7.8% vs 4.3%) were more prevalent in the adult group. The VSD was the only cardiac abnormality in 78% of patients, 20% had one associated abnormality and 2.5% two or three. Muscular defects were less prevalent among adult patients (11% vs 23%) as a result of spontaneous closure. Forty-four children had chromosomal abnormalities: trisomy 21 (29), trisomy 18 (7), trisomy 13 (4), and 22q11 deletion (4). Seven hundred and forty-three patients were assessed in infancy and 29 (4%) of these died, 28 in infancy. Of the 28, 11 had chromosomal abnormalities, five had other congenital malformation syndromes, two were preterm, and one had immotile cilia. The prevalence of aortic regurgitation increased with age, it being most commonly diagnosed at between 11 and 15 years of age. One hundred and six children (12.6%) had corrective surgery (including percutaneous closure) at a mean age of 1.4 years. No patient developed endocarditis.
Additional cardiac abnormalities were present in 22% of these patients with VSD and such abnormalities should be looked for on initial assessment. The authors of this paper recommend follow up to at least the age of 30 years in order to detect secondary aortic regurgitation or infundibular aortic stenosis.
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The error is much regretted