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Types of cardiac defects in children with Down's syndrome

Published online by Cambridge University Press:  22 March 2006

Vladimiro L. Vida and
Aldo R. Castañeda
Vladimiro L. Vida
Affiliation:
Pediatric Cardiac Surgery Unit of Guatemala, 9a Avenida, 8-00 Zone 11, Guatemala City Guatemala, Central America
Aldo R. Castañeda
Affiliation:
Pediatric Cardiac Surgery Unit of Guatemala, 9a Avenida, 8-00 Zone 11, Guatemala City Guatemala, Central America
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Abstract

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Information

Type
Letters to the Editor
Information
Cardiology in the Young , Volume 16 , Issue 2 , April 2006, pp. 197
Copyright
© 2006 Cambridge University Press

Sir,

We thank Placidi, Digilio, and Marino for their interest in our work. Our findings concerning the principal association between patency of the arterial duct and Down's syndrome in Guatemala are clearly in contrast with the classic epidemiologic reports, where atrioventricular septal defects with common atrioventricular junction, and ventricular septal defects, are the lesions most frequently observed in Caucasian1, 2 and Asian3, 4 populations with Down's syndrome. Our data,5 nevertheless, is similar to that reported from other Latin-American countries. In Mexico,6 for example, patency of the arterial duct was also found to be the most frequently associated lesion in patients with Down's syndrome. Our data is also in keeping with that from Mexico6 with regard to the frequency of ventricular and atrioventricular septal defects, which proved to be the second and the fourth most frequent isolated cardiac malformations in such patients.

The cardiac phenotype is, indeed, the result of many genetic interactions and specific embryological mechanisms, especially in children with major genetic defects.7 Ethnic and geographic factors, nonetheless, may also influence the formation of these anomalies. Guatemala has close to 13 million inhabitants, of whom approximately nine-tenths are of Mayan descent and Ladinos, while the remaining one-tenth of the population is made up of minority racial groups, such as Whites, Garifunas, and Xincas. About two-fifths of the population is extremely poor, earning less than 2 United States dollars each day, and have very limited access to medical care. In our paediatric cardiac surgical unit, two-thirds of children with congenital cardiac malformations, including those with Down's syndrome, also suffered from chronic malnutrition. Furthermore, two-thirds of the patients also live at least 1500 metres above sea level.5 Conceivably, all these ethnic-geographic factors may also contribute to explain the different frequency of associated cardiac malformations seen in our population with Down's syndrome. Further genetic studies are clearly essential to explain the encountered differences in cardiac phenotype in the various geographic populations with Down's syndrome.

The Letter was also shown to Dr Samson and his colleagues, who thank the group from Bambino Gesù Hospital for their comments, with which they agree.

References

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