Key result
PRKAR1A mutation in Carney complex presents with extensive and early recurrent cardiac myxomas requiring resection.
Case Report (n=2)
No
This case report identifies a specific PRKAR1A gene mutation (c.491_492delTG) associated with extensive cardiac myxomas in Chinese patients with Carney complex.
This mutation may signal higher myxoma burden in Carney complex; extends known PRKAR1A variants but leaves genotype-phenotype links open for confirmation.
Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation.
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Guo et al. (2015) conducted a case report in Carney complex (n=2). PRKAR1A c.491_492delTG mutation was evaluated. Two related Chinese male patients with Carney complex and a PRKAR1A c.491_492delTG mutation presented with multiple, extensive cardiac myxomas requiring surgical resection, with one experiencing early recurrence.
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