Background In the past 2 decades, rapid advances in health care system have been made in Romania, including the pediatric heart surgery. A complete medical examination, prerequisite for cardiac surgery, entails the detection and evaluation of any associated non-cardiac defects (NCD).
Material and Method During a 48-month period, between 2003–2007, we retrospectively reviewed the medical files of 79 patients diagnosed with CHD in our department. We identified 63 patients with associated NCD. Syndromes were classified as single defect, though many had multisystem manifestations.
Results As expected, there was an association between Down syndrome and cardiac septal defects: 87.5% of these patients had some form of septal defect. 6 from 7 cases of atrioventricular canal occurred in patients with 21 trisomy. Gastrointestinal defects were less common, but tended to be severe (anorectal malformation and esophageal atresia). We identified NCD in these specific syndromes: Ivemark, Marfan, Williams-Beuren, fetal-alcohol syndrome, Noonan, congenital rubella syndrome. Also, there were: mental retardation, facial dysmorphism, palate and/or lips defects, hemihypertrophy, diafragmatic hernia, defects of the genito-urinary system, neurologial abnormalities-those not listed into any recognized syndrome.
Conclusions The study confirmed the well-recognized association between the 21 trisomy and cardiac malformations and emphasize the need to search for such defects in any child with Down phenotype. There is a relatively high incidence of serious NCD in children with CHD. If a child with a CHD has a genetic syndrome, revealed by NCD, counseling is helpful to determine the risk of heart defects occurring in future children.