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A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death

Published online by Cambridge University Press:  16 November 2010

André Jakob ,
Sheila Unger ,
Raoul Arnold ,
Jochen Grohmann ,
Cornelia Kraus ,
Christian Schlensak  and
Brigitte Stiller
André Jakob*
Affiliation:
Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany
Sheila Unger
Affiliation:
Department of Human Genetics, University Hospital of Freiburg, Breisacherstraße 33, 79106 Freiburg, Germany
Raoul Arnold
Affiliation:
Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany
Jochen Grohmann
Affiliation:
Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany
Cornelia Kraus
Affiliation:
Department of Human Genetics, University Hospital of Erlangen, Schwabachanlage 10, 91054 Erlangen, Germany
Christian Schlensak
Affiliation:
Department of Cardiac Surgery, University Hospital of Freiburg, Hugstetter Street 55 79106 Freiburg, Germany
Brigitte Stiller
Affiliation:
Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany
*
Correspondence to: Dr A. Jakob, Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany. Tel: +49(0)761 270 4323; Fax: +49(0)761 270 4468; E-mail: andre.jakob@uniklinik-freiburg.de
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Abstract

Supravalvular aortic stenosis is associated with the Williams–Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the elastin gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.

Keywords

Supravalvular aortic stenosisgeneral anaesthesiacoronary stenoses
Type
Original Articles
Information
Cardiology in the Young , Volume 21 , Issue 1 , February 2011 , pp. 62 - 65
Copyright
Copyright © Cambridge University Press 2010

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