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The genetics of hypoplastic left heart syndrome

Published online by Cambridge University Press:  19 August 2008

Paul D. Grossfeld
Paul D. Grossfeld*
Affiliation:
Division of Pediatric Cardiology and Department of Medicine, University of California, San Diego, USA
*
Paul D. Grossfeld, MD, Division of Pediatric Cardiology and Department of Medicine, University of California, San Diego 200 West Arbor Drive San Diego, California 92103, USA. Tel: 619 543 5980; Fax: 619 534 8081; E-maii: [email protected]
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Abstract

Hypoplastic left heart syndrome is one of the most therapeutically challenging congenital cardiac defects. It accounts for as many as 1.5% of all congenital heart defects, but is responsible for up to one quarter of deaths in neonates with heart disease.1 The management of hypoplastic left heart syndrome is controversial. Two surgical options exist:2,3 the Norwood procedure, is a three stage repair in which the morphologically right ventricle is converted to function as the systemic ventricle. Alternatively, orthotopic transplantation can be performed. Although both surgical options have had improved outcomes, the prognosis for long-term survival is guarded, with a five year survival for either approach reported to be in the region of 50–60%. In this review, I explore the evidence for a genetic etiology for the “classic” hypoplastic left heart syndrome, defined as mitral and/or aortic atresia with hypoplasia of the left ventricular cavity and the other left-sided structures.

Type
Continuing Medical Education
Information
Cardiology in the Young , Volume 9 , Issue 6 , November 1999 , pp. 627 - 632
Copyright
Copyright © Cambridge University Press 1999

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