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

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.

Keywords:

• Embolic stroke
• atrial myxoma
• carney complex syndrome
• genetic cause
• review

Disclosure statement

No potential conflict of interest was reported by the authors.