Echocardiography (4-chamber view) of a patient with Ebstein anomaly and LVNC
A possible association between Ebstein anomaly with LVNC and mutations in MYH7 encoding ß-myosin heavy chain was tested in a large cohort of unrelated probands with Ebstein anomaly. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Significant pleiotropy and reduced penetrance were characteristic of MYH7 mutation-positive congenital heart malformations. MYH7 mutations were predominantly found in Ebstein anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients. Ebstein anomaly is within the diverse spectrum of cardiac morphologies triggered by a sarcomere protein gene defect.Our study provides evidence for a link between structural proteins, cardiomyopathy, and congenital heart malformations (Postma et al., 2011). In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC (Stähli et al., 2012).