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Summary  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  PRKAR1A  gene have been identified in ∼70% 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  PRKAR1A  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 bp insertion mutation in  PRKAR1A  which was predicted to be deleterious by  in silico  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  PRKAR1A  insertion mutation in a patient with acromegaly and left atrial myxoma in CNC.   Learning pointsIdentification of a novel deleterious  PRKAR1A  insertion mutation causing CNC.    It is important that patients with cardiac myxoma be investigated for presence of endocrine overactivity suggestive of CNC.PRKAR1A  mutation analysis should be undertaken in such cases to confirm the diagnosis in the patients as well as first degree relatives.    This case highlights an important aspect of diagnosis, clinical course, and management of this rare condition.

Rare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation