Naslov
Congenital heart hefects in Cornelia de Lange syndrome

Autori
Barišić, Ingeborg ; Odak, Ljubica ; Loane, Maria ; Bianchi, Fabrizio ; Calzolari, Elisa ; Garne, Ester ; Wellesley, Diane ; Dolk, Helen and EUROCAT Working Group

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

Izvornik
Paediatria Croatica. Supplement 2 / Barišić, Ingeborg - Zagreb, 2009, 7-7

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Cornelia de Lange syndrome; heart defects

Sažetak
Cornelia de Lange syndrome (CdL) is a rare multiple congenital anomaly syndrome characterized by specific facial dysmorphic features, hypertrichosis, upper limb deficiency, intrauterine growth retardation, developmental delay and various associated anomalies. The aim of our study was to determine the spectrum and the proportion of congenital heart disease (CHD) in CdLS, their possible effects on prenatal detection, type of birth, time of diagnosis and survival. Methods: we analyzed 93 cases of CdL syndrome reported in 1980-2002 period to 33 European congenital malformation registries included in EUROCAT (European Surveillance of Congenital Anomalies) network. Results: CHD was found in 45% of patients with classical CdLS. The most common cardiac anomalies were ventricular septal defect (VSD) (13/93 or 31%), atrial septal defect (ASD) (10/93 or 23.8%) and pulmonary valve stenosis (PS) (9/93 or 21.4%). Comparing group of patients with CHD and without CHD, no significant differences were found regarding prenatal detection rate, gestational age at discovery, time of diagnosis, length of gestation, birth weight by sex, type of birth, or the first week survival. Conclusions: we have found a very high rate of CHD in classical CdLS, although the type/severity of CHD was such that it did not influence the outcome of pregnancy and survival. PS is found more often than expected from the distribution of CHD in general population. High rate of CHD in CdLS warrants a detailed cardiac examination in affected newborns.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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