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Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases

Published online by Cambridge University Press:  12 November 2010

Matthew J. O’Connor ,
Nicholas L. Rider ,
R. Thomas Collins II ,
Brian D. Hanna ,
D. Holmes Morton  and
Kevin A. Strauss
Matthew J. O’Connor*
Affiliation:
Division of Cardiology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
Nicholas L. Rider
Affiliation:
The Clinic for Special Children, Strasburg, Pennsylvania, United States of America Lancaster General Hospital, Lancaster, Pennsylvania, United States of America
R. Thomas Collins II
Affiliation:
Division of Cardiology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
Brian D. Hanna
Affiliation:
Division of Cardiology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
D. Holmes Morton
Affiliation:
The Clinic for Special Children, Strasburg, Pennsylvania, United States of America Lancaster General Hospital, Lancaster, Pennsylvania, United States of America Department of Biology, Franklin and Marshall College, Lancaster, Pennsylvania, United States of America
Kevin A. Strauss
Affiliation:
The Clinic for Special Children, Strasburg, Pennsylvania, United States of America Lancaster General Hospital, Lancaster, Pennsylvania, United States of America Department of Biology, Franklin and Marshall College, Lancaster, Pennsylvania, United States of America
*
Correspondence to: Dr M.J. O’Connor, MD, The Cardiac Center, The Children’s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104-4399, United States of America. Tel: (215) 590 3548; Fax: (267) 426 9800; E-mail: oconnorm@email.chop.edu
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Abstract

Introduction

Ellis – van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis – van Creveld syndrome being regarded as having a high surgical risk, few data are available regarding their outcomes following surgery for congenital malformations of the heart in the current era.

Materials and methods

In this retrospective report, we summarise the clinical observations and outcomes of nine infants with Ellis – van Creveld syndrome who underwent surgery for congenital malformations of the heart between 2004 and 2009.

Results

We identified 15 patients with Ellis – van Creveld syndrome during the study period; 11 (73%) had haemodynamically significant congenital malformations of the heart warranting surgery. In two of these patients, surgery was not performed. Of the nine patients who underwent surgery, all of whom were infants, eight (89%) had various forms of an atrioventricular septal defect and one patient (11%) had hypoplastic left heart syndrome (mitral and aortic atresia). Among the nine patients who underwent surgery, four (44%) died at a median of 102 days with a range of 25–149 days post-operatively, mostly from respiratory failure. Respiratory morbidity was seen in all surviving patients, of whom three underwent tracheostomy.

Conclusions

Surgery for congenital malformations of the heart can be successful in infants with Ellis – van Creveld syndrome, but mortality is high and post-operative respiratory morbidity should be expected.

Keywords

Amishsurgerycardiac
Type
Original Articles
Information
Cardiology in the Young , Volume 21 , Issue 2 , April 2011 , pp. 145 - 152
Copyright
Copyright © Cambridge University Press 2010

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