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dc.contributor.authorKhan, Zulqarnain
dc.contributor.authorAlkhatib, Hani
dc.contributor.authorRamani, Gautam V
dc.date.accessioned2021-11-01T18:27:09Z
dc.date.available2021-11-01T18:27:09Z
dc.date.issued2021-10-24
dc.identifier.urihttp://hdl.handle.net/10713/17027
dc.description.abstractBackground: Intracardiac tumors are a rare entity, with myxomas being the most common among them (approximately 50% of intracardiac tumors). Up to 80% of myxomas originate within the left atrium and while most are incidental or isolated findings in asymptomatic patients, others may result in clinical manifestations of heart failure or emboli. Moreover, in some cases, myxomas can be part of a genetically inherited syndrome known as Carney complex (CNC), and present with varied phenotypes, including skin, endocrine, and neuroendocrine tumors. Case Report: We present a case of a 54-year-old male patient who presented with a several-month history of non-specif-ic cough, dyspnea on exertion, and palpitations along with several skin tags, nevi, and nodules. He was found to have a retrocardiac density on chest X-ray, which was revealed to be a large left atrial myxoma on echocardiography. The myxoma was surgically excised and genetic testing for a mutation of the PRKAR1A gene (the most common mutation underlying CNC) was negative. However, 2 major clinical criteria for diagnosis of CNC were fulfilled based on cardiac myxoma and spotty skin pigmentation. In this report, we focus on the clinical manifestations of CNC, including guidance on tumor surveillance and genetic variants of CNC. Conclusions: While CNC is most commonly associated with an inactivating mutation of the PRKAR1A gene, it can be diag-nosed clinically in the absence of an identifiable genetic mutation. In patients presenting with atypical cardiac tumors, the early recognition of cutaneous manifestations can raise the index of suspicion for CNC, which can facilitate early diagnosis, treatment, and initiation of surveillance for neoplasia development. © Am J Case Rep, 2021.en_US
dc.description.urihttps://doi.org/10.12659/AJCR.933744en_US
dc.language.isoenen_US
dc.publisherInternational Scientific Information, Inc.en_US
dc.relation.ispartofAmerican Journal of Case Reportsen_US
dc.subjectPRKAR1A Proteinen_US
dc.subjectHumanen_US
dc.subjectCarney complexen_US
dc.subjectAtrial myxomaen_US
dc.subjectfamilialen_US
dc.titleCase Report: An Atypical Case of Carney Complexen_US
dc.typeArticleen_US
dc.identifier.doi10.12659/AJCR.933744
dc.identifier.pmid34689149
dc.source.volume22
dc.source.beginpagee933744
dc.source.endpage
dc.source.countryUnited States


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