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Familial recurrence of congenital heart diseases

K Thammineni1, J Lohr, M Trefz

  • 1Division of Pediatric Cardiology, University of Minnesota, Minneapolis, MN 55455, USA.

Journal of Perinatology : Official Journal of the California Perinatal Association
|November 1, 2011
PubMed

Insights

Congenital heart disease recurrence is rare. This report details the first mother-to-offspring transmission of d-transposition of great arteries (d-TGA) and a sibling recurrence of total anomalous pulmonary venous return (TAPVR).

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Familial recurrence of congenital heart disease (CHD) is uncommon.
  • Sibling recurrence of total anomalous pulmonary venous return (TAPVR) has been documented.
  • Mother-to-offspring recurrence of d-transposition of great arteries (d-TGA) has not been previously reported.

Purpose of the Study:

  • To report the first case of mother-to-offspring recurrence of d-transposition of great arteries (d-TGA).
  • To describe a case of sibling recurrence of total anomalous pulmonary venous return (TAPVR).
  • To highlight the importance of considering familial recurrence in non-syndromic CHD.

Main Methods:

  • Case report of two families with non-syndromic congenital heart disease.
  • Antenatal diagnosis using fetal echocardiography.
  • Review of relevant medical literature.

Main Results:

  • The first case involved antenatal diagnosis of d-TGA in an infant born to a mother with d-TGA.
  • The second case involved antenatal diagnosis of supradiaphragmatic TAPVR in a child, with a sibling previously diagnosed with infradiaphragmatic TAPVR.
  • Both cases involved non-syndromic forms of CHD.

Conclusions:

  • This report presents the first documented case of mother-to-offspring recurrence of d-TGA.
  • Sibling recurrence of TAPVR was observed in the second case.
  • These findings suggest a potential genetic component in certain forms of non-syndromic CHD, emphasizing the need for careful family history assessment.

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