Introduction: Chromosomopathies are an important cause of morbidity and mortality in children, especially by visceral malformative syndrome, most commonly represented as cardiac ones. The type and severity of cardiac malformations is the most important factor in assessing the prognosis in these patients.
Objective: T he main objective of the study was cha-racterization of cardiac malformations in patients with chromosomopathies
Methods: We evaluated by echocardiography 312 pa-tients: 178 patients with Down syndrome; 58 patients with Turner syndrome, 13 patients with Klinefelter syndrome, 12 patients with Prader-Willi syndrome, 4 patients with Williams syndrome, 3 patients with Alla-gile syndrome, 2 patients with Patau syndrome, 2 pati-ents with Rubinstein-Taybi syndrome, 2 patients with Sotos syndrome, one patient with Edwards syndrome and 32 patients with different types of chromosomo-pathies. In all patients different types of cytogenetic and molecular tests (karyotype, MLPA and FISH) were performed.
Results: Cardiac malformations were present in 134 patients: 99 patients with Down syndrome; 16 patients with Turner syndrome, 1 patient with Prader-Willi syndrome, 4 patients with Williams syndrome, 2 pa-tients with Allagile syndrome, 2 patients with Patau syndrome, 1 patient with Rubinstein-Taybi syndro-me, 1 patient with Sotos syndrome, one patient with Edwards syndrome and 8 patients with different types of chromosomopathies. Cardiac malformations in pa-tients with trisomy 21 were: ASD (37%), CAVC (24%), DSV (16%), tetralogy of Fallot (6%), PDA (6%), other associated malformations (9%). In patients with Tur-ner syndrome the following malformations were dia-gnosed: bicuspid aortic valve (isolated or associated with other malformations) – (57.5%), coarctation of the aorta (27.5%), aortic stenosis (18%), ASD (27.5%) and PDA (6%).
Conclusions: Cardiac malformations were present in 44.5% of patients with chromosomial diseases.