Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report
2009
Case Report of Ventricular Noncompaction in a Patient with Cystinosis
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Ahmed Ibrar, Phan Thanh Trung, Lipkin Graham W, Frenneaux Michael
Primary Institution: University of Birmingham
Conclusion
This case report highlights the importance of recognizing left ventricular noncompaction in patients with nephropathic cystinosis.
Supporting Evidence
- This is the first case report of the co-existence of nephropathic cystinosis and isolated noncompaction of the left ventricle.
- The patient experienced decompensated heart failure and underwent implantation of an automatic implantable cardioverter defibrillator.
- Echocardiography revealed excessive trabeculation in the left ventricle, consistent with noncompaction.
Takeaway
A 24-year-old woman with a kidney disease called cystinosis also had a heart problem where her heart's left ventricle didn't form properly, which can cause serious health issues.
Methodology
The diagnosis was made using trans-thoracic echocardiography to assess the heart's structure and function.
Participant Demographics
A 24-year-old female patient with nephropathic cystinosis.
Digital Object Identifier (DOI)
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