JournalAmerican Journal of Case Reports
PublisherInternational Scientific Information, Inc.
MetadataShow full item record
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.
Identifier to cite or link to this itemhttp://hdl.handle.net/10713/17027
- Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.
- Authors: Akin S, Noyan S, Dagdelen S, Pasaoglu I, Kaynaroglu V, Askun MM, Bilen CY, Kiratli H, Baydar DE, Onder S, Sokmensuer C, Aytemir K, Erkin G, Kiratli PO, Alikasifoglu M, Erbas T
- Issue date: 2017 Aug
- Carney complex (CNC).
- Authors: Bertherat J
- Issue date: 2006 Jun 6
- [Carney complex].
- Authors: Losada Grande EJ, Al Kassam Martínez D, González Boillos M
- Issue date: 2011 Jun-Jul
- PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors.
- Authors: Maleszewski JJ, Larsen BT, Kip NS, Castonguay MC, Edwards WD, Carney JA, Kipp BR
- Issue date: 2014 Aug
- Recurrent right ventricular cardiac myxoma in a patient with Carney complex: a case report.
- Authors: Sardar MR, Lahoti A, Khaji A, Saeed W, Maqsood K, Zegel HG, Romanelli JE, McGeehin FC 3rd
- Issue date: 2014 May 2