Spectrum of congenital heart defects in Croatia

Abstract

Abstract:1 2The aim of our study was to investigate the incidence of congenital defects in children born in Croatia during a 3 period of 5 years, its association with extracardiac malformations, its treatment and outcome. Medical 4 information about the patients was obtained from 14 paediatric cardiology centres that cover the whole country.

Association of congenital heart diseases with extracardiac anomalies

“…Karande et al, Miller et al and Dilber and Malcic found incidence of extracardiac anomalies 17.5%, 13.5% and 14.5% respectively which was lower than our study. [10][11][12] Down syndrome is the most common identified syndrome in our study. The prevalence of congenital heart disease in down syndrome was similar to the findings from other studies, which have been between 44% and 62%.…”

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

“…The frequency of chromosomal abnormalities reported in subsets of patients from other studies ranged from 2.6 to 12.5% (usually around 9%) 7,8,[18][19][20][21][22][23]25,26,29,30 . Our study detected the highest rate (14.6%) and was the only one to perform karyotype analysis in all patients and to specifically assess this approach.…”

“…It demonstrates the importance of physical examination, by an expert such as a clinical geneticist, on the suspicion of occurrence of malformations in other organs or systems. In our literature review, we did not find reports classifying patients into syndromic or not by dysmorphological physical examination 7,[8][9][10][18][19][20][21][22][23][24][25][26][27][28][29][30] . Kramer et al 19 pointed that the recognition of minor malformations may serve as indicator of general problems in morphogenesis and may constitute valuable clue in the diagnosis of specific patterns of malformations.…”

“…In a literature review, only two publications in English language were found with similar goal to our study, that was to evaluate presence of abdominal malformations in patients with CHD through AUS 9,10 . In contrast, our study is unique in that all CHD patients underwent AUS, high resolution karyotype and FISH for detection of microdeletion 22q11.2, and all were examined by a clinical geneticist 7,[8][9][10][18][19][20][21][22][23][24][25][26][27][28][29][30] .…”

“…In the study of Muragasu et al 10 , the patients were submitted only to the ultrasound study of the urinary tract, and 11.9% clinically significant abnormalities were found. Most of the other studies that described extracardiac malformations in patients with CHD did not indicate which methods were used to detect abdominal abnormalities, and were performed retrospectively through review of patient records 7,18,[21][22][23][24][25][27][28][29][30] .…”