[Heart malformations in children with Down syndrome]

Abstract

Introduction and objectives: A longitudinal, retrospective, observational descriptive study was done at the National Institute of Pediatrics in Mexico City to determine the incidence, type of heart disease and clinical course in patients with Down syndrome (DS), and to compare the findings with data from other countries. Down syndrome is a disease caused by trisomy of chromosome 21. The frequency of presentation in one in 650 live births. Frequency in the general population is about 1%. Cardiac malformation is the main cause of mortality in the first 2 years of life.

Patients and method: In a 5-year period 275 patients (aged neonate to 13 years) were diagnosed with DS. Diagnosis was based on echocardiogram, catheterization, genetics, surgical exploration or necropsy. Age, sex, clinical manifestations, mother's age, type of heart defect were recorded.

Results: Of the 275 children with DS, 160 had congenital heart disease. The most frequent cardiopathies were interauricular septal defect (IASD), interventricular septal defect (IVSD) and patent ductus arteriousus (PDA) (90%). In contrast to the data from other countries, only 14 patients (8%) had atrioventricular septal defect (AVSD). Twenty-five patients died (15%) from sepsis and cardiogenic shock.

Conclusions: At our institute 58% of the children with DS had congenital heart malformation. The most frequent cardiopathies were different from those reported in other countries.