Multi-district coronary tree involvement in a 17-year-old girl with Williams–Beuren syndrome

TL;DR

A 17-year-old girl with Williams–Beuren syndrome showed rare, widespread coronary artery issues, highlighting the condition's potential for severe heart complications.

Contribution

This case presents a rare example of multi-district coronary involvement in Williams–Beuren syndrome with detailed imaging.

Findings

The patient had transmural fibrosis and reduced left ventricular ejection fraction.

Multiple stenoses and aneurysms were found in the coronary artery tree beyond the ostia.

Surgical correction was deemed too risky due to the severity of the aortic and coronary abnormalities.

Abstract

We describe a case of 17-year-old Chinese girl referred to our Pediatric Cardiology Unit for asthenia, reduced exercise tolerance, and dyspnea. Past medical history was relevant for multiple chest pain episodes in childhood and several syncopal episodes, for which the patient had been never evaluated. Clinical examination, electrocardiogram, and echocardiography were compatible with Williams–Beuren syndrome; such condition was later confirmed by genetic analysis. Cardiac magnetic resonance imaging showed transmural fibrosis of the apex with impaired left ventricular ejection fraction (29 %), severe stenosis of aortic sinotubular junction with left and right coronary ostia involvement; more importantly, the whole coronary artery tree beyond ostia was affected by multiple stenosis and aneurysmatic tracts. Ascending aorta proved hypoplastic, with post-stenotic dilation and multiple aneurysms. At the end of the diagnostic process, surgical risk was considered too high to proceed with the correction. The presented case is of educational value since it provides good iconographical illustration of diffuse, multiple-site coronary artery tree involvement, a rather rare co-morbidity in Williams–Beuren syndrome.

The online version of this article (doi:10.1186/s40064-015-1231-0) contains supplementary material, which is available to authorized users.

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