OBJECTIVE: To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. METHODS: Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7. RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age. CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.
OBJECTIVE: To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. METHODS: Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7. RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age. CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.
Authors: C Hayes; Z Johnson; L Thornton; J Fogarty; R Lyons; M O'Connor; V Delany; K Buckley Journal: Int J Epidemiol Date: 1997-08 Impact factor: 7.196
Authors: Emily Graves Allen; Sallie B Freeman; Charlotte Druschel; Charlotte A Hobbs; Leslie A O'Leary; Paul A Romitti; Marjorie H Royle; Claudine P Torfs; Stephanie L Sherman Journal: Hum Genet Date: 2008-12-03 Impact factor: 4.132
Authors: E Aït Yahya-Graison; J Aubert; L Dauphinot; I Rivals; M Prieur; G Golfier; J Rossier; L Personnaz; N Creau; H Bléhaut; S Robin; J M Delabar; M-C Potier Journal: Am J Hum Genet Date: 2007-07-19 Impact factor: 11.025
Authors: Alexander Van de Bruaene; Marion Delcroix; Agnes Pasquet; Julie De Backer; Michel De Pauw; Robert Naeije; Jean-Luc Vachiéry; Bernard Paelinck; Marielle Morissens; Werner Budts Journal: Acta Cardiol Date: 2009-08 Impact factor: 1.718