Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report
<p>Abstract</p> <p>Introduction</p> <p>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 reduce...
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doaj-69d06dc29ee8489f813c745227181e2e2020-11-24T21:06:02ZengBMCJournal of Medical Case Reports1752-19472009-01-01313110.1186/1752-1947-3-31Ventricular noncompaction in a female patient with nephropathic cystinosis: a case reportAhmed IbrarPhan ThanhLipkin Graham WFrenneaux Michael<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p> http://www.jmedicalcasereports.com/content/3/1/31 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ahmed Ibrar Phan Thanh Lipkin Graham W Frenneaux Michael |
spellingShingle |
Ahmed Ibrar Phan Thanh Lipkin Graham W Frenneaux Michael Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report Journal of Medical Case Reports |
author_facet |
Ahmed Ibrar Phan Thanh Lipkin Graham W Frenneaux Michael |
author_sort |
Ahmed Ibrar |
title |
Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
title_short |
Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
title_full |
Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
title_fullStr |
Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
title_full_unstemmed |
Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
title_sort |
ventricular noncompaction in a female patient with nephropathic cystinosis: a case report |
publisher |
BMC |
series |
Journal of Medical Case Reports |
issn |
1752-1947 |
publishDate |
2009-01-01 |
description |
<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p> |
url |
http://www.jmedicalcasereports.com/content/3/1/31 |
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