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Williams syndrome associated with complete atrioventricular septal defect
S Nakamoto1, T Saga, T Shinohara
1Department of Cardiovascular Surgery, Kinki University School of Medicine, Osaka, Japan. snakamot@med.kindai.ac.jp
Heart (British Cardiac Society)
|April 16, 2003
Summary
Williams syndrome, a genetic disorder, can present with rare complete atrioventricular septal defects. This study reports a 10-year follow-up showing stable aortic pressure gradients despite aortic narrowing in such patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pediatric Cardiology
Background:
- Williams syndrome is a rare genetic disorder characterized by a distinct facial appearance, cardiovascular abnormalities, developmental delays, and other health issues.
- Congenital cardiac defects are common in Williams syndrome, with supravalvar aortic stenosis and peripheral pulmonary stenosis being prevalent.
- Complete atrioventricular septal defects are exceptionally rare in Williams syndrome, with limited documented cases.
Observation:
- This report details the long-term follow-up of a patient with Williams syndrome and a complete atrioventricular septal defect.
- The observation period spanned 10 years, during which serial cardiovascular assessments were conducted.
- Aortography revealed progressive narrowing of the ascending aorta over the follow-up period.
Findings:
- Despite the documented narrowing of the ascending aorta, the pressure gradient across the supravalvar region remained stable throughout the 10-year follow-up.
- This suggests that the aortic narrowing did not lead to a significant increase in hemodynamic obstruction in the ascending aorta.
- The patient's overall cardiovascular status remained stable concerning the specific defect.
Implications:
- The findings suggest that not all cases of aortic narrowing in Williams syndrome with complete atrioventricular septal defects necessarily lead to increased pressure gradients.
- This case provides valuable insights into the natural history and potential hemodynamic stability in rare cardiovascular manifestations of Williams syndrome.
- Further long-term studies are warranted to understand the variability in cardiovascular progression in Williams syndrome with complex congenital heart defects.