Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome.

Abstract

INTRODUCTION:

The Holt-Oram syndrome is a rare congenital disorder involving the skeletal and cardiovascular systems. It is characterized by upper limb deformities and cardiac malformations, atrial septal defects in particular.

PRESENTATION OF CASE:

Four consecutive patients 1-15 years old with the Holt-Oram syndrome presented over a 10 year span for surgical treatment of their cardiac maladies. The spectrum of the heart defects and skeletal deformities encountered in these patients are described and discussed.

DISCUSSION:

The Holt-Oram syndrome is an autosomal dominant condition; however absence of the morphological features of the trait in close family members is not rare. Although patients are known to predominately present with atrial septal defects, other cardiovascular anomalies, including rhythm abnormalities, are not uncommon. Skeletal disorders vary as well.

CONCLUSION:

Cardiovascular disorders, skeletal malformations and familial expression of the Holt-Oram syndrome, vary widely.

• Authors: Gregory Chryssostomidis, Meletios Kanakis, Vassiliki Fotiadou, Cleo Laskari, Theofili Kousi, Christos Apostolidis, Prodromos Azariadis, Andrew Chatzis
• Journal: International journal of surgery case reports (Int J Surg Case Rep) Vol. 5 Issue 7 Pg. 389-92 ( 2014) ISSN: 2210-2612 [Print] Netherlands
• PMID: 24879328 (Publication Type: Journal Article)
• Copyright: Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.