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Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report
Nasatya Khadka1, Pooja Kc2, Shailendra Sharma3
1Medicine, Emilio Aguinaldo College, Manila, PHL.
Cureus
|December 18, 2023
Summary
Nail-patella syndrome (NPS) is a rare genetic disorder. This case highlights a 17-year-old male with NPS, presenting with skeletal issues, renal failure, hypothyroidism, and a rare association with dilated cardiomyopathy.
Area of Science:
- Genetics
- Cardiology
- Nephrology
- Orthopedics
Background:
- Nail-patella syndrome (NPS) is a rare autosomal dominant genetic disorder.
- It is characterized by a tetrad of abnormalities: nail dysplasia, patellar agenesis or hypoplasia, iliac horns, and delayed eruption of teeth.
- Extra-skeletal manifestations, including renal disease, are common, but cardiac involvement is rarely reported.
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