https://orcid.org/0000-0002-4058-5520
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Abstract
Background
“Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors.
Methods/results
We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC.
Conclusion
The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.
Disclosure statement
No potential conflict of interest was reported by the authors.