Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report.

Khadka, Nasatya; Kc, Pooja; Sharma, Shailendra; Sharma, Sandesh; Rayamajhi, Sumugdha

Khadka, Nasatya; Kc, Pooja; Sharma, Shailendra; Sharma, Sandesh; Rayamajhi, Sumugdha.

Afiliación

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.

Cureus ; 15(11): e48969, 2023 Nov.

Article en En | MEDLINE | ID: mdl-38106781

ABSTRACT

ABSTRACT

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.

Palabras clave

dilated cardiomyopathy (dcm); dysplastic fingernail; dysplastic patella; end stage renal disease (esrd); nail-patella syndrome; pitted nail

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cureus Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos

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