Mutations in the sarcomere gene MYH7 in Ebstein anomaly

Alex V. Postma, Klaartje Van Engelen, Judith Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, Thomas Pickardt, Silke R. Sperling, Felix Berger, Antoon F M Moorman, Barbara J M Mulder, Ludwig Thierfelder, Bernard Keavney, Judith Goodship, Sabine Klaassen

    Research output: Contribution to journalArticlepeer-review


    Background-Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with Ebstein anomaly in a large population-based study. Methods and Results-Mutational analysis in a cohort of 141 unrelated probands with Ebstein anomaly was performed by next-generation sequencing and direct DNA sequencing of MYH7. Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found; 5 were novel and 2 were known to cause hypertrophic cardiomyopathy. All mutations except for 1 3-bp deletion were missense mutations; 1 was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein anomaly (P
    Original languageEnglish
    Pages (from-to)43-50
    Number of pages7
    JournalCirculation: Cardiovascular Genetics
    Issue number1
    Publication statusPublished - Feb 2011


    • Cardiomyopathy
    • Congenital
    • Genetics
    • Heart defects


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