Cardiology in the Young

Original Articles

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

André Jakoba1 c1, Sheila Ungera2, Raoul Arnolda1, Jochen Grohmanna1, Cornelia Krausa3, Christian Schlensaka4 and Brigitte Stillera1

a1 Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany

a2 Department of Human Genetics, University Hospital of Freiburg, Breisacherstraße 33, 79106 Freiburg, Germany

a3 Department of Human Genetics, University Hospital of Erlangen, Schwabachanlage 10, 91054 Erlangen, Germany

a4 Department of Cardiac Surgery, University Hospital of Freiburg, Hugstetter Street 55 79106 Freiburg, Germany


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.

(Received May 20 2010)

(Accepted August 22 2010)

(Online publication November 16 2010)