Carney Complex syndrome manifesting as Cardioembolic Stroke: A case Report and Review of the Literature

"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"[1].

Keywords: Atrial myxoma; Carney Complex syndrome; Embolic stroke; Genetic cause; Review.