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European Heart Journal Advance Access originally published online on December 11, 2007
European Heart Journal 2008 29(10):1282; doi:10.1093/eurheartj/ehm568
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2007. For permissions please email: journals.permissions@oxfordjournals.org

Arterial aneurysm in tuberous sclerosis

Andreas M.E. Koch1,*, Rolf Janka2, Werner Lang3 and Sven Dittrich1

1 Paediatric Cardiology, Department of Paediatrics and Adolescent Medicine, University of Erlangen-Nürnberg, Loschgestr. 15, D-91054 Erlangen, Germany
2 Institute of Radiology, University of Erlangen, Maximiliansplatz 1, 91054 Erlangen, Germany
3 Department of Vascular Surgery, University of Erlangen, Krankenhausstrasse 12, 91054 Erlangen, Germany

* Corresponding author. Tel.: +49 9131 8533118, Fax: +49 9131 8535987. Email: andreas.koch{at}uk-erlangen.de

A 4-year-old boy presented with a bulge on the right side of the chest. The parents had noticed the swelling for the first time 3 weeks before (Panel A). At the age of 6 months, a diagnostic work-up for focal seizures had revealed tuberous sclerosis (Bourneville's disease) with left frontal and paraventricular cortical tubers, a renal angiomyolipoma on the right, multiple hypomelanotic macules of the skin (Panel B), and rhabdomyomas of the heart in the left ventricle (Panel C).

Physical exam showed a 5 x 5 cm subclavian and axillary mass with palpable pulsation and audible flow murmur. Peripheral pulses and blood pressure in all extremities were inconspicuous. Selective angiography confirmed the diagnosis of a subclavian artery aneurysm (Panel D). Magnetic resonance angiography was performed with a 1.5-T scanner to rule out additional aneurysms (Panel E), picturing also the large rhabdomyomas in the left ventricle (Panel F).

Surgically treatment with resection of the aneurysm and interposition of saphenous vein graft was performed. Histological examination confirmed a true aneurysm.

Aneurysms of the great arteries can occur in patients with tuberous sclerosis. This rare association has to be remembered in the management of patients with tuberous sclerosis at any age.

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This Article
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