Key result
A Greek family presented with recurrent embolic strokes secondary to left-sided atrial myxomas, highlighting cerebrovascular disease as a rare manifestation of Carney complex syndrome.
Why the study?
There are limited cases in the literature describing cardioembolic stroke secondary to left-sided atrial myxomas as the presentation of CNC, which typically presents with an endocrine syndrome.
Case Report
Highlights the rare presentation of Carney complex syndrome with cardioembolic stroke secondary to atrial myxomas, emphasizing the need for CNC screening when cardiac myxomas and skin lesions co-occur.
Answers are grounded in this paper and cite their sources.
Clinicians should consider Carney complex in recurrent embolic strokes from atrial myxomas; this case extends the phenotypic spectrum but remains hypothesis-generating.
BACKGROUND: 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.
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Chatzikonstantinou et al. (2020) conducted a case report in Carney complex syndrome (CNC) with cardioembolic stroke. Carney complex syndrome (CNC) was evaluated on Recurrent embolic strokes. A Greek family presented with recurrent embolic strokes secondary to left-sided atrial myxomas, highlighting cerebrovascular disease as a rare manifestation of Carney complex syndrome.
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