Congenital heart defect with associated malformations in children

Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study

“…Although the frequency of CHD in the general population is <1%, it is in the range of 16.5–28.5% in patients with GI malformations,2 3 6 7 and as high as 65% in those GI malformations cases accompanied by syndromes 1. In a study by Tulloh et al ,4 about 20% of patients with major GI malformations had an associated CHD.…”

Gastrointestinal system malformations in children are associated with congenital heart defects

“…Frequency of congenital heart disease (CHD) was higher in the group with GISM compared to normal population (1)(2)(3)(4). Detailed investigation of the children with GISM for other system malformations is essential for the treatment of patients with GISM is difficult in the presence of coexisting anomaly (5).…”

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

“…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] .…”

“…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.…”