Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.

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.