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Open Access 01-12-2015 | Case report

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

Authors: Hongwei Guo, Jianping Xu, Hui Xiong, Shengshou Hu

Published in: World Journal of Surgical Oncology | Issue 1/2015

Abstract

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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Title: Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
Authors: Hongwei Guo
Jianping Xu
Hui Xiong
Shengshou Hu
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: World Journal of Surgical Oncology / Issue 1/2015
Electronic ISSN: 1477-7819
DOI: https://doi.org/10.1186/s12957-015-0470-4

At a glance: The STEP trials

Springer Medicine

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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