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Prevalence and development of additional cardiac abnormalities in 1448 patients with congenital ventricular septal defects
  1. S Glen1,
  2. J Burns2,
  3. P Bloomfield1
  1. 1Royal Infirmary of Edinburgh, Edinburgh, UK
  2. 2Royal Hospital for Sick Children, Edinburgh, UK
  1. Correspondence to:
    Dr Stephen Glen
    Stirling Royal Infirmary, Livilands, Stirling FK8 2AU, UK;


Objective: To determine by modern echocardiographic techniques the prevalence and development of cardiac abnormalities associated with ventricular septal defect (VSD).

Methods: Consecutive patients referred to a tertiary centre for paediatric cardiology and attenders at an adult congenital heart disease clinic had details of clinical outcome prospectively recorded. Patients with VSD in association with conotruncal abnormalities, atrioventricular septal defects, and univentricular heart were not included in the study.

Results: 1448 patients with VSD were assessed between 1991 and 1998. 1127 (78%) patients had isolated defects; of these 862 (76%) were perimembranous and 265 (24%) were muscular. Of the remainder, 284 (19.6% of the total population) patients had VSD associated with one other significant cardiac abnormality: 35 (2.4%) with two and two (0.1%) with three other abnormalities. The most common associated cardiac abnormalities were infundibular pulmonary stenosis (5.8%), aortic valve prolapse (3.6%), pulmonary valvar stenosis (2.7%), osteum secundum atrial septal defect (2.2%), persistent ductus arteriosus (1.9%), and coarctation of the aorta (1.5%). In the cohort of 743 patients followed up from birth, cumulative mortality was 4% by the age of 8 years and most deaths occurred within the first year of life in infants with associated genetic abnormalities such as trisomy 13 or 18. Of the 594 patients attending the adult congenital clinic with VSD, aortic regurgitation due to aortic root prolapse developed in 45 (7.6%) patients. Most of these cases were detected before the patient was 30 years old.

Conclusions: In 22% of patients with congenital VSD there were significant associated cardiac abnormalities. Some of these abnormalities, such as aortic prolapse and regurgitation or infundibular pulmonary stenosis, may develop or progress subsequently and therefore should be sought during the initial assessment and monitored during follow up. Follow up to the age of 30 years allows the detection of most cases of aortic regurgitation. The prognosis from VSD is excellent and the risk of endocarditis in a population informed of the need for antibiotic prophylaxis is small.

  • ventricular septal defect
  • echocardiography
  • aortic regurgitation: congenital heart disease

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