Abstract
IntroductionWe 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 presentationOur 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.ConclusionThis 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.
Highlights
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
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
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
Summary
Isolated noncompaction of the left ventricle (LV) is increasingly being recognized as a distinct entity with a significant associated morbidity and mortality; definitions are still being debated. The patient was referred for cardiology consultation following a period of increased breathlessness and a cardiac arrest precipitated by ventricular tachycardia from which she was successfully DC cardioverted. Her medication at that time included perindopril 4 mg once daily (od), carvedilol 3.125 mg twice daily (bd), prednisolone 5 mg od, levothyroxine 200 mcg od, folic acid 5 mg od, darbepoetin 80 mcg per week, mercaptamine (Cystagon) 150 mg four times per day (qds), calcium carbonate 500 mg three times daily (tds), aspirin 75 mg od and alfacalcidol 1.5 mcg od. Multiple intertrabecular recesses in communication with the LV cavity were demonstrated by forward and reverse flow of blood on colour flow mapping (Figure 1) These features are consistent with current diagnostic criteria for isolated ventricular noncompaction. At the time of writing, the patient had been referred for heart and kidney transplant assessment and had undergone implantation of an automatic implantable cardioverter defibrillator (AICD)
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