Genetic testing for Ebstein anomaly

The EuroBiotech Journal

Dundar Munis¹  Beccari Tommaso²  Bertelli Matteo³  Maltese Paolo Enrico³  Rakhmanov Yeltay³  Bruson Alice³ 

[1] Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey;Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy;MAGI’s Lab, Rovereto, Italy;

关键词: ebstein anomaly;    ebtna utility gene test;   

DOI  :  10.2478/ebtj-2018-0038

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown