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Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis

Published online by Cambridge University Press:  04 March 2010

Arun J. Ramappa  and
Jason R. Pyatt
Arun J. Ramappa
Affiliation:
Department of Cardiology, Royal Liverpool and Broadgreen University Teaching Hospitals NHS Trust, Prescot Street, Liverpool, United Kingdom
Jason R. Pyatt*
Affiliation:
Department of Cardiology, Royal Liverpool and Broadgreen University Teaching Hospitals NHS Trust, Prescot Street, Liverpool, United Kingdom
*
Correspondence to: Dr Jason R Pyatt MB, MPhil, FRCP, Consultant Cardiologist, Department of Cardiology, Royal Liverpool and Broadgreen University Teaching Hospitals NHS Trust Prescot Street, Liverpool, L7 8XP, United Kingdom. Tel: +44 151 706 2000; Fax: +44 151 706 5833; E-mail: jason.pyatt@rlbuht.nhs.uk
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Abstract

Cystinosis is a rare autosomal recessive metabolic disorder characterised by an intracellular accumulation of cystine leading to severe organ dysfunction. It affects renal function, has extra-renal complications but has rarely been associated with cardiac disease. Renal transplantation and cysteamine have dramatically improved the prognosis in the nephropathic form. We present the case of a young adult Caucasian female diagnosed with nephropathic cystinosis and receiving haemodialysis who subsequently developed dilated cardiomyopathy. She presented with acute cardiac failure occurring early after stillbirth following an unplanned pregnancy when her cysteamine had been stopped. Transthoracic echocardiography showed typical features of dilated cardiomyopathy which was absent on pre-pregnancy scans. Investigations failed to identify an underlying cause for her cardiomyopathy. She responded to conventional treatment and currently has had full recovery of her cardiac function confirmed on follow-up echocardiography. As cardiomyopathy rarely co-exists with cystinosis, we believe that this case represents pregnancy-associated cardiomyopathy rather than direct involvement by her cystinosis, particularly as a minority of pregnant patients with associated cardiomyopathy develop heart failure early before the conventional period for peripartum cardiomyopathy. Patient characteristics and maternal outcomes are similar, albeit with higher risk of premature delivery suggesting the same underlying pathological process.

Keywords

Cardiomyopathypregnancycystinosis
Type
Brief Reports
Information
Cardiology in the Young , Volume 20 , Issue 2 , April 2010 , pp. 220 - 222
Copyright
Copyright © Cambridge University Press 2010

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