Abstract

Carney Complex (CNC) is a hereditary lentiginosis syndrome caused by mutations in the PRKAR1A gene, leading to abnormalities in the cyclic AMP-dependent protein kinase (PKA) signalling pathway. This condition predisposes individuals to pigmented lesions, myxomas, and endocrine tumors. We present a case of a 28-year-old male diagnosed with CNC after experiencing a cardioembolic stroke due to a left ventricular myxoma. The diagnosis was suspected following a clinical examination that revealed small, well-demarcated, light brown skin lesions around the eyes and over the back. These characteristic skin findings, combined with the presence of cardiac myxomas, raised the suspicion of CNC. Although CNC typically presents with endocrine abnormalities, this case exemplifies a less common presentation. Our report emphasizes the importance of recognizing the diverse phenotypic spectrum of CNC and the need for awareness of this rare, often under diagnosed syndrome.

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