Tetralogy of Fallot: Genetic Basis, Inheritance, and Counseling
Tetralogy of Fallot (TOF) has a genetic component but complex inheritance:
- Genetic Factors: Multiple mutations/chromosomal abnormalities (22q11.2 deletion, JAG1, NKX2-5, others) disrupt cardiac development.
- Multifactorial Inheritance: Genes + environment (maternal diabetes, rubella, alcohol, folate deficiency).
- Heritability: ~30–50%, but most cases sporadic (no family history).
- Recurrence Risk: 2–5% with one affected sibling; higher with parental TOF or chromosomal syndrome.
Genetic Counseling Value
- Assess family history
- Discuss testing options (karyotype, microarray, gene panels)
- Prenatal diagnosis (fetal echo, CVS/amnio if mutation known)
- Family planning guidance
Ongoing research aims to clarify genetic architecture for better prediction and targeted therapy.
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