Key result
EBTNA Utility Gene Test aids diagnosis and risk assessment of Ebstein anomaly.
Genetic testing for NKX2-5, MYH7, and TPM1 can be a useful utility for the diagnosis and management of Ebstein anomaly.
May support targeted genetic testing in Ebstein anomaly; leaves open prospective validation before routine use.
Ebstein anomaly (EA) is a rare congenital tricuspid valve malformation, characterized by downward displacement of the septal leaflet and an atrialized right ventricle. About 80% of cases of EA are non-syndromic; in the other 20%, the anomaly is associated with a chromosomal or Mendelian syndrome. The prevalence of EA is estimated at about 1 per 20,000 live births, and accounts for less than 1% of all congenital heart defects. EA has autosomal dominant inheritance. Likely causative genes are: NKX2-5 , MYH7 and TPM1 . This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, potential risk assessment and access to clinical trials.
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Rakhmanov et al. (2018) conducted a review in Ebstein anomaly. EBTNA Utility Gene Test was evaluated. The EBTNA Utility Gene Test, which analyzes genes including NKX2-5, MYH7, and TPM1, is useful for confirming diagnosis, differential diagnosis, and risk assessment of Ebstein anomaly.
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