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Fresh fields and pathways new: recent genetic insights into cardiac malformation
  1. F T Leong1,
  2. L J Freeman2,
  3. B D Keavney3
  1. 1
    Papworth Hospital, Cambridge, UK
  2. 2
    Norfolk and Norwich University Hospital, Norwich, UK
  3. 3
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
  1. Dr F T Leong, Department of Cardiology, Papworth Hospital, Papworth Everad, Cambridge CB23 8RE, UK; f.t.leong{at}


Cardiovascular malformations are the most common type of birth defect. Currently, only a fraction of cases have associated causative factors and little is known about the aetiology of the rest. Despite this, our understanding of normal and abnormal heart development continues to grow, a number of recent discoveries even challenging long-held concepts. In this review, we highlight some of this new knowledge, emphasising aspects that may be of interest to the clinician.

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  • Additional references (w1–w59) are published online only at

  • Funding: BDK holds a chair from the British Heart Foundation.

  • Competing interests: None.

  • Patient consent: Obtained.