Congenital heart diseases (CHD) occur in approximately 1 in 100 live newborns (Hoffman and Kaplan, 2002). It is estimated that the mortality caused by CHD represents 10% of all causes of infant deaths worldwide (Botto and Correa, 2003). This study includes an analysis of the CHD, as well as the relationship between genetic syndromes and congenital heart anomalies in 26 children, highlighting the influence of prenatal factors and clinical features of the evolution of CHD in children with chromosomal abnormalities. Our study revealed that the most frequent of chromosomal syndromes associated with CHD is the Down syndrome (61.5%). The most common CHD in these patients was the atrioventricular canal (56.25% cases), early complicated with pulmonary hypertension by the age of 6 months.

Malformatiile congenitale cardiace (MCC) apar la aproximativ 1 din 100 nou-nascuti vii (Hoffman and Kaplan, 2002). Se estimeaza ca mortalitatea cauzata de MCC reprezinta 10% din toate cauzele deceselor infantile pe glob (Botto and Correa, 2003). Studiul dat a inclus analiza interrelatiei dintre MCC si sindroame genetice la 26 de copii spitalizati în sectia de cardiologie pediatrica, evidentierea factorilor etiologici prenatali si unor particularitati clinico-evolutive a MCC în raport cu anomalia cromozomiala . Studiul nostru a evidentiat ca în structura sindroamelor cromozomiale la copiii cu MCC predomina sindromul Down (61,53%). Cea mai frecventa MCC la acesti pacienti a fost canalul atrioventricular comun (56,25% cazuri), complicat timpuriu cu hipertensiune arteriala pulmonara pâna la vârsta de 6 luni.