| Item | Quantitative data | Population/Study type | Notes/mechanism | Key citation (with URL and year) |
|---|---:|---|---|---|
| Incidence | 20–30 per 100,000 live births | Disease review / epidemiology summary | d-TGA is a major cyanotic congenital heart defect in newborns | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000000) |
| Share of congenital heart defects | 5–7% of CHDs | Disease review / epidemiology summary | Also described as the second most common cyanotic CHD | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000000, pqac-00000002) |
| Sex ratio | Male:female ≈ 1.5:1 to 3.2:1 | Disease review / epidemiology summary | Male predominance is consistently reported | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000000) |
| Untreated mortality | 30% by 1 week; 50% by 1 month; 70% by 6 months; 90% by 1 year | Natural history summary before modern surgery | Mortality reflects parallel circulations with inadequate mixing if untreated | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000000, pqac-00000006) |
| Sibling/familial recurrence | 0.2–1.7% | Familial recurrence literature summarized in review | Supports low but non-zero recurrence; consistent with multifactorial/polygenic inheritance | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000004) |
| Noncardiac malformations | ~10% | Disease review / clinical spectrum summary | Mostly renal and cerebral anomalies; d-TGA is isolated in ~90% | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000000, pqac-00000030) |
| Maternal diabetes as d-TGA-specific risk factor | “At least two-fold” increased risk | Saudi population study summarized in 2024 review | Also associated with family history, increasing maternal age, and parity | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000004, pqac-00000022) |
| Maternal pregestational diabetes as CHD risk factor | 3–5-fold increased risk; up to 8-fold higher risk reported | 2023 review of human and model data on CHD | Hyperglycemia is proposed as the main teratogen, acting through ROS/oxidative stress and genetic/epigenetic dysregulation | Ibrahim et al., 2023, https://doi.org/10.3390/ijms242216258 (pqac-00000019) |
| Environmental association: pesticides | Qualitative association reported | Review summary | Reported among maternal environmental risk factors for d-TGA | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000002) |
| Environmental association: retinoic acid / vitamin A exposure | Mouse model: trans-retinoic acid at E8.5 produced TGA in ~75% of fetuses | Experimental animal model summarized in review | Supports teratogenic disruption of outflow tract alignment; implicates TBX2–TGFβ2/retinoid signaling | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000045) |
| Environmental association: first-trimester medications | Qualitative association reported | Review summary | Antiepileptic and hormonal drug exposure in first trimester listed among associations | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001) |
| Environmental association: maternal infections | Qualitative association reported | Review summary | Respiratory infections, influenza, and viral exposure listed among associations | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000002) |
| Environmental association: IVF conception | Qualitative association reported | Review summary | In vitro fertilization is listed among associated non-genetic factors | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000002) |
| Environmental association: ionizing radiation | Qualitative association reported | Review summary | Maternal ionizing radiation exposure listed among associated risk factors | Zubrzycki et al., 2024, https://doi.org/10.3390/jcm13164823 (pqac-00000001, pqac-00000002) |


*Table: This table compiles the main quantitative epidemiology and risk-factor data for dextro-transposition of the great arteries from the retrieved evidence. It highlights baseline frequency, natural history without treatment, recurrence, and major maternal/environmental associations useful for a disease knowledge base.*