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    Article

    Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

    Valvular heart disease is observed in approximately 2% of the general population1. Although the initial observation is often localized (for example, to the aortic or mitral valve), disease manifestations are regu...

    Florian Wünnemann, Asaf Ta-Shma, Christoph Preuss, Severine Leclerc… in Nature Genetics (2020)

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    Article

    ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

    Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)1–3 that frequently presents with ascending aortic aneurysm (AscAA)4. BAV/AscAA shows autosomal dominant inheritance wit...

    Russell A. Gould, Hamza Aziz, Courtney E. Woods… in Nature Genetics (2019)

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    Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome

    Hypoplastic left heart syndrome (HLHS) is a rare and severe defect in which the structures of the left side of the heart are severely underdeveloped. Only a very small minority of HLHS cases can currently be e...

    Florian Wünnemann, Gregor U. Andelfinger in Congenital Heart Diseases: The Broken Heart (2016)

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    Article

    Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

    Gregor Andelfinger and colleagues identify mutations in SGOL1 that cause a novel cohesinopathy characterized by chronic atrial and intestinal dysrhythmia, termed CAID syndrome. SGOL1 encodes a component of the co...

    Philippe Chetaille, Christoph Preuss, Silja Burkhard, Jean-Marc Côté… in Nature Genetics (2014)