Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA [Original Articles]

Conclusions— Although congenital heart disease is reported in families with mutations in FLNA, this is the first report of individuals being affected by Ebstein anomaly because of a mutation in this gene and details the concurrent skeletal phenotype observed in this family.

http://circgenetics.ahajournals.org/cgi/content/short/10/6/e001683?rss=1

Source: Circulation: Cardiovascular Genetics - December 13, 2017 Category: Cardiology Authors: Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S. Tags: Cardiovascular Disease, Genetics, Congenital Heart Disease, Heart Failure Original Articles Source Type: research