Case report

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report

Ibrar Ahmed¹ , Thanh Trung Phan¹ , Graham W Lipkin² and Michael Frenneaux¹

¹  Department of Cardiovascular Medicine, Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK

²  Department of Nephrology, University Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK

author email corresponding author email

Journal of Medical Case Reports 2009, 3:31doi:10.1186/1752-1947-3-31

Published:	29 January 2009

Abstract

Introduction

We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise tolerance as a consequence of ventricular dysfunction, the result of embolus or with palpitations and syncope due to arrhythmia. There is no specific treatment directed at isolated noncompaction. Treatment is focused on the cause of presentation, with medication aimed at improving ventricular dysfunction, as well as treating and preventing thrombosis and arrhythmia.

Case presentation

Our patient presented with an episode of decompensated heart failure. Trans-thoracic echocardiography demonstrated excessive trabeculation with inter-trabecular recesses in the left ventricle typical of noncompaction of the left ventricle. The patient's admission was complicated by a cardiac arrest precipitated by ventricular tachycardia for which she subsequently underwent implantation of an automatic implantable cardioverter defibrillator.

Conclusion

This is, as far as we know, the first case report of the co-existence of nephropathic cystinosis and isolated noncompaction of the left ventricle. It highlights the importance of being vigilant to the diagnosis of left ventricular noncompaction.