Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

S Chatzikonstantinou, D Kazis, P Giannakopoulou, P Poulios, O Pikou, T Geroukis, C Lyssikatos, C A Stratakis, S Bostanjopoulou

The International journal of neuroscience 2022 Jul

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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. 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. The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.

Citation

S Chatzikonstantinou, D Kazis, P Giannakopoulou, P Poulios, O Pikou, T Geroukis, C Lyssikatos, C A Stratakis, S Bostanjopoulou. Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature. The International journal of neuroscience. 2022 Jul;132(7):649-655