Caspian Journal of Pediatrics

Background: Extracardiac malformations can be seen in 20-45% of infants with congenital heart disease (CHD). Chromosomal abnormalities exist in 5-10% of patients with CHD. The aim of this study was to assess the frequency of overt extra cardiac malformations in children with CHD.

Methods: This descriptive epidemiologic study was conducted on 720 patients with CHD referred to the pediatric cardiac clinic of the most important south west referral center of Iran in 2014. Data were collected by studying patients' files during this time.

Results: Totally, 401(55.7%) and 319 (44.3%) of patients were male and female, respectively. Extracardiac malformations were diagnosed in 53 cases (7.36%) and multiple extracardiac malformations involving more than one anomaly were present in 10 cases (1.38%). The most frequent extracardiac malformations in the current study included skeletal and visceral abnormalities and then genitourinary was seen. Of all patients, 33 (4.58%) cases were affected by syndromic features of which Down syndrome was the most common.

Conclusions: Investigation for extra cardiac abnormalities in patients with CHD is very important, since proper diagnosis and early treatment of these abnormalities can improve the patients' outcomes. On the other hand all the patients with overt and syndromic abnormalities require investigation for a possible CHD.