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Is Congenital Heart Defects Genetic?
- Heritability
- ~53%
- Inheritance
- polygenic
- Key genes
- GATA4 TBX5 NKX2-5
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Structural heart defects present at birth. Heritability is ~50%; monogenic causes account for ~20% with the rest polygenic.
How Genetic Is Congenital Heart Defects?
Congenital Heart Defects involves complex interactions between multiple genes and environmental factors. Heritability estimates range up to 53%, though no single gene determines outcome on its own.
Key genes associated with Congenital Heart Defects: GATA4 TBX5 NKX2-5. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Congenital Heart Defects?
Family history can be informative for Congenital Heart Defects, but its predictive power is limited because many genes — each with small effects — combine with environmental influences. A family history of the condition may prompt earlier or more frequent screening.
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