{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:29:15Z","timestamp":1790270955666,"version":"4.1.0"},"reference-count":26,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,9,1]]},"abstract":"Summary<\/jats:title>\n \n Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the\n PRKAR1A<\/jats:italic>\n gene have been identified in \u223c70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a history of recurrent atrial myxoma for the past 8 years for which he underwent repeated surgeries. Presently, he complained of having headache, excessive snoring, sweating, and also noticed increase in his shoe size. Evaluation for acromegaly revealed elevated levels of GH in random as well as in suppressed condition. Magnetic resonance imaging scan revealed enlarged sella with microadenoma in the left anterior pituitary. Screening of\n PRKAR1A<\/jats:italic>\n gene was carried out for the patient, his parents and siblings who were available and willing to undergo the test. The patient was diagnosed to have the rare CNC syndrome characterized by recurrent atrial myxoma and acromegaly due to a novel 22\u200abp insertion mutation in\n PRKAR1A<\/jats:italic>\n which was predicted to be deleterious by\n in silico<\/jats:italic>\n analysis. Screening the available family members revealed the absence of this mutation in them except the elder brother who also tested positive for this mutation. The present study reports on a novel\n PRKAR1A<\/jats:italic>\n insertion mutation in a patient with acromegaly and left atrial myxoma in CNC.\n <\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n \n Identification of a novel deleterious\n PRKAR1A<\/jats:italic>\n insertion mutation causing CNC.\n <\/jats:p>\n <\/jats:list-item>\n \n It is important that patients with cardiac myxoma be investigated for presence of endocrine overactivity suggestive of CNC.<\/jats:p>\n <\/jats:list-item>\n \n \n PRKAR1A<\/jats:italic>\n mutation analysis should be undertaken in such cases to confirm the diagnosis in the patients as well as first degree relatives.\n <\/jats:p>\n <\/jats:list-item>\n \n This case highlights an important aspect of diagnosis, clinical course, and management of this rare condition.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n 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Genetics, Department of Anatomy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Tandon","sequence":"additional","affiliation":[{"name":"2 Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref131","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical & molecular features of the Carney complex: diagnostic criteria and recommendation for patient evaluation","volume":"86","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1439-0272.2007.00784.x","article-title":"Male infertility as a component of Carney 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