Article
Andersen-Tawil Syndrome: A Comprehensive Review.
Cardiology in review - 1 Jan 2000
Pérez-Riera Andrés Ricardo, Barbosa-Barros Raimundo, Samesina Nelson, Pastore Carlos Alberto, Scanavacca Mauricio, Daminello-Raimundo Rodrigo, de Abreu Luiz Carlos, Nikus Kjell, Brugada Pedro
Abstract excerpt
Andersen-Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, which encodes the α subunit of the K+ channel protein Kir2.1 (in ≈ 50-60% of cases). ATS type 2 is in turn linked to a rare mutation in the KCNJ5-GIRK4 gene that encodes...
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