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A common cause of congenital heart disease
  1. A Church,
  2. S W Dubrey
  1. Department of Cardiology, Hillingdon Hospital, Uxbridge, Middlesex, UK
  1. Dr Simon W Dubrey, Department of Cardiology, Hillingdon Hospital, Pield Heath Road, Uxbridge, Middlesex UB8 3NN, UK; simon.dubrey{at}

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The schematic of a family tree shows the facial appearance of three women (fig 1). The woman in panel A is in her mid 50s and her two daughters (panels B and C) are both in their 30s. All three women are well and in full time employment. On examination the woman shown in panel A has a soft systolic murmur in the pulmonary area. She has a past history of heart valve surgery performed at the age of 19 years and correction of unilateral ptosis as a child. The woman shown in panel B also has a soft systolic murmur at the upper left sternal edge. She has a daughter (D) who is well and of normal phenotype. The woman in panel C has a normal cardiovascular examination. All three women are just under 5 feet (1.5 m) in height.

Figure 1 Family tree schematic. Informed consent was obtained from all three individuals for publication of this figure.


  1. What is the likely unifying …

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