A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
Bjornsson T, Thorolfsdottir RB, Sveinbjornsson G et al.
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Aims: Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA.
39 Icelandic ancestry cases, 140,661 Icelandic ancestry controls
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