Naslov
Congenital heart defects in Cornelia de Lange, Fraser and Goldenhar syndrome - epidemiological survey of EUROCAT registries

Autori
Barišić, Ingeborg ; Tokić, Višnja ; Loane, Maria ; Bianchi, Fabrizio ; Calzolari, Eliza ; Garne, Ester ; Wellesley, Diana ; Dolk, Helen ; EUROCAT Working Group

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Prevention of Congenital Anomalies - 9th EUROCAT European Symposium - abstracts / - Napulj : EUROCAT, 2007, 16-16

Skup
Prevention of Congenital Anomalies - 9th EUROCAT European Symposium - abstracts

Mjesto i datum
Napulj, Italija, 07.05.2007

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
congenital heart defects; Cornelia de Lange syndrome; Oculo-auriculo-vertebral spectrum; Fraser syndrome; Goldenhar syndrome; OAVS

Sažetak
Objectives: to determine the presence of congenital heart defects (CHD) in the three selected rare dysmorphic syndromes (Cornelia de Lange syndrome (CdLS), oculo-auriculo-vertebral spectrum (OAVS) including Goldenhar syndrome, and Fraser syndrome (FS)). Design and Participants: the data were extracted from the database of EUROCAT (European Surveillance of Congenital Anomalies), a large European network of population-based congenital anomaly registries that use the same epidemiological methodologies. Main Outcome Measures: establishing the frequency and distribution of specific types of CHD on the large population-based sample of patients affected with these rare syndromes and determining the impact of the presence of CHD on the time of the diagnosis and survival. Results: cardiac anomalies were the most common in CdLS, being present in 46% (42/93) of patients. Congenital heart defects were found in 25% (57/224) of OAVS cases and in 20% (3/15) of Fraser patients. Ventricular septal defect was the most frequent anomaly in all analysed syndromes and was recorded in 14% (13/93) of CdLS, 12% (27/224) of OAVS patients and in 7% (1/15) of FS patients. Atrial septal defect followed, with 11% (10/93), 8% (17/224) and 7% (1/15) of cases, respectively. Pulmonary valve stenosis was also frequent in CdLS (10% - 9/93). Dextrocardia was noted in 4 patients with OAVS (2%). CHD in CdLS, OAVS or FS had no significant impact on the time of the diagnosis (p=0.983, p=0.078, p= 0.164, respectively) or survival (p=0.750, p= 0.124, p= 0.261, respectively) of the cases. Conclusion: the CHD proportion in CdLS, OAVS and FS in EUROCAT population is comparable with the data from literature. Survival and time of diagnosis have not significantly affected the time of diagnosis or survival of cases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA