Work

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report

Year: 2023

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.48969

Authors: Nasatya Khadka, Pooja KC, Shailendra Sharma, Sandesh Sharma, Sumugdha Rayamajhi

Institutions: Sparrow Health System, Emilio Aguinaldo College, Michigan State University, Sparrow Hospital

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4388751811