Hostname: page-component-586b7cd67f-rdxmf Total loading time: 0 Render date: 2024-11-23T08:34:57.559Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  19 August 2008

Rolf G. Bennhagen  and
Samuel Menahem
Rolf G. Bennhagen
Affiliation:
Department of Cardiology, Royal Children's Hospital, Melbourne, Australia
Samuel Menahem*
Affiliation:
Department of Cardiology, Royal Children's Hospital, Melbourne, Australia
*
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.
Get access Rights & Permissions [Opens in a new window]

Abstract

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.

Keywords

Multiple ventricular septal defectsHolt-Oram syndrome
Type
Brief Reports
Information
Cardiology in the Young , Volume 8 , Issue 1 , January 1998 , pp. 128 - 130
Copyright
Copyright © Cambridge University Press 1998

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Holt, M, Oram, S. Familial heart disease with skeletal malformations. Br Heart J 1960;22: 236.CrossRefGoogle ScholarPubMed
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: 401–404.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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: 405–408.CrossRefGoogle Scholar
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: 401–404.CrossRefGoogle Scholar
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: 437–442.CrossRefGoogle ScholarPubMed