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Holt-Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker?

  • Rolf G. Bennhagen (a1) and Samuel Menahem (a1)

A family is described where the father has the many skeletal, but none of the cardiac abnormalities associated with the Holt-Oram syndrome. His two daughters have similar skeletal anomalies, but with identical cardiac lesions, as does another patient, raising the possibility of an associated genetic marker.

Corresponding author
Professor S Menahem, Department of Cardiology, Royal Children's Hospital. Flemington Road, Parkville, Victoria. 3052, Australia. Tel: 61-3-9345 5715 Fax: 61-3-9345 6001.
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1. Holt M, Oram S. Familial heart disease with skeletal malformations. Br Heart J 1960;22: 236.
2. Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome. Nat Genet 1994;6: 401404.
3. Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seideman CE. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330:1627.
4. Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J et al. . A gene for Holt-Oram syndrome maps to the distal long arm chromosome 12. Nat Genet 1994;6: 405408.
5. Terret JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. Holt-Oram syndrome is genetically heterogenous disease with one locus mapping to human chromosome 12q. Nat Genet 1994;6: 401404.
6. Serraf A, Lacour-Gayet F, Bruniaux J, Ouaknine R, Losay J, Petit J, Binet JP, Planche C. Surgical management of isolated multiple ventricular septal defects. Logical approach in 130 cases. J Thorac Cardiovasc Surg 1992;103: 437442.
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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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