| Factor Information | |
|---|---|
| Data ID | 455 |
| Factor | ‘rare’ (minor allele frequency: MAF<0.01) |
| Description | Up to 20% of children with congenital heart disease (CHD) undergoing cardiac surgery develop neurodevelopmental disabilities (NDD), with some studies reporting persistent impairment. Recent large-scale studies have demonstrated shared genetic mechanisms contributing to CHD and NDD. |
| Biomarker | NA |
| Classification | D1 (molecular factor - DNA) |
| Association | |
|---|---|
| Application | prognosis |
| Objective | to asse the clinical applicability of these recent findings for patients with CHD±NDD using a targeted gene panel-based approach. |
| p Value | <0.001 |
| Conclusion | These findings suggest that an increase in novel and rare variants in known CHD and/or NDD genes is associated with the development of NDD in patients with CHD. |
| Risk Factor | unknown |
| CHD Type | |
|---|---|
| ID | 456 |
| CHD Type | isolated CHD/non-isolated CHD |
| CHD Subtype | SD/AVSD/MOT/OL/FSV/HTX/other |
| Reference | |
|---|---|
| PMID | 29910053 |
| Year | 2018 |
| Title | Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. |
| Sample | ||
|---|---|---|
| Population | children | |
| Source | 148 genes implicated in CHD and/or NDD | |
| Region | Sydney,Australia | |
| Method | Targeted massively parallel sequencing as well as targeted capture was conducted at Oxford Gene Technologies using their standard protocol. | |
| Race | Oceania | |
| Disease History | N/A | |
| Treatment History | neonatal cardiac surgery | |
| Group | CHD+NDD(Treatment) | control(Control) |
| Number | 15 | 15 |
| Age | N/A | N/A |
| Gender (Male: Female) | 9:6 | 9:6 |
| Marker Level | 198.73 ±19.83 | 176.67 ± 28.89 |
