Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report.
| Autor: | Khadka N; Medicine, Emilio Aguinaldo College, Manila, PHL., Kc P; Internal Medicine, Nepal Development Society, Kathmandu, NPL., Sharma S; Nephrology, Sparrow Health System, Lansing, USA., Sharma S; Internal Medicine, Kausilya Aspatal, Banke, NPL., Rayamajhi S; Internal Medicine, Michigan State University College of Human Medicine, East Lansing, USA. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Nov 17; Vol. 15 (11), pp. e48969. Date of Electronic Publication: 2023 Nov 17 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.48969 |
| Abstrakt: | Nail-patella syndrome (NPS) is a rare genetic disorder with multiple skeletal deformities and a variety of extra-skeletal involvements. We present a 17-year-old male with a clinical tetrad of skeletal abnormalities, multiple bony deformities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy. A clinical diagnosis of NPS was made, supported by radiographic findings, and corroborated by compatible renal biopsy results. There are very few published reports describing the association of dilated cardiomyopathy with this syndrome. A high index of suspicion is needed to make this diagnosis, given myriads of multi-systemic manifestations. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Khadka et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|