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Human Genetics of Semilunar Valve and Aortic Arch Anomalies

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Congenital Heart Diseases: The Broken Heart

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Abstract

Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams–Beuren, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt–Oram syndrome.

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Author information

Authors and Affiliations

  1. Genomics England, Queen Mary University of London, London, UK

    Matina Prapa

  2. Cardiac Morphology, Royal Brompton & Harefield NHS Foundation Trust, London, UK

    Siew Yen Ho

Authors
  1. Matina Prapa
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  2. Siew Yen Ho
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Correspondence to Siew Yen Ho .

Editor information

Editors and Affiliations

  1. Cardiovascular Genetics, Charité - Universitätsmedizin Berlin , Berlin, Germany

    Silke Rickert-Sperling

  2. Developmental Biology, Inst. of Marseilles, Aix-Marseille Univ. , Marseille, France

    Robert G. Kelly

  3. Dpt. of Pediatrics Div.of Pediatric Card, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    David J. Driscoll

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Prapa, M., Ho, S.Y. (2016). Human Genetics of Semilunar Valve and Aortic Arch Anomalies. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_41

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