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A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

ABSTRACT:

SUBMITTER: Kim YJ

PROVIDER: S-EPMC4330185 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

Kim Young Jin YJ Park Tae Sung TS Han Mi Young MY Yoon Hoi Soo HS Choi Yong-Sung YS

Annals of laboratory medicine 20150212 2

PMID: 25729737

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Project description:Background Delayed brain development, brain injury, and neurodevelopmental disabilities are commonly observed in infants operated for complex congenital heart defect. Our previous findings of poorer neurodevelopmental outcomes in individuals operated for simple congenital heart defects calls for further etiological clarification. Hence, we examined the microstructural tissue composition in cerebral cortex and subcortical structures in comparison to healthy controls and whether differences were associated with neurodevelopmental outcomes. Methods and Results Adults (n=62) who underwent surgical closure of an atrial septal defect (n=33) or a ventricular septal defect (n=29) in childhood and a group of healthy, matched controls (n=38) were enrolled. Brain diffusional kurtosis imaging and neuropsychological assessment were performed. Cortical and subcortical tissue microstructure were assessed using mean kurtosis tensor and mean diffusivity and compared between groups and tested for associations with neuropsychological outcomes. Alterations in microstructural tissue composition were found in the parietal, temporal, and occipital lobes in the congenital heart defects, with distinct mean kurtosis tensor cluster-specific changes in the right visual cortex (pericalcarine gyrus, P=0.002; occipital part of fusiform and lingual gyri, P=0.019). Altered microstructural tissue composition in the subcortical structures was uncovered in atrial septal defects but not in ventricular septal defects. Associations were found between altered cerebral microstructure and social recognition and executive function. Conclusions Children operated for simple congenital heart defects demonstrated altered microstructural tissue composition in the cerebral cortex and subcortical structures during adulthood when compared with healthy peers. Alterations in cerebral microstructural tissue composition were associated with poorer neuropsychological performance. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03871881.

Dataset Information

A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

Publications

A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

Similar Datasets

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