This case report highlights the presentation of familial Carney complex with biatrial cardiac myxomas and PRKAR1A gene mutations, emphasizing the role of echocardiography and surgical treatment.
May support PRKAR1A screening in familial myxomas; leaves open need for larger validation studies.
We report a case of Carney complex (CNC) with biatrial cardiac myxoma. The patient had left and right atrial myxomas which were resected in a surgery. She showed bilateral adrenal tumors and multiple mammary tumors. She had pigmentation on her lower lip. Previously, her daughter was also diagnosed with CNC with cardiac myxoma. Both of them showed mutations in the PRKAR1A gene. < Learning objective: Carney complex is a syndrome with skin pigmentation, myxomas, and endocrine abnormalities. It is an autosomal dominant disease and shows PRKAR1A gene mutation. We experienced a rare case of familial Carney complex with biatrial cardiac myoxomas found by echocardiography and treated surgically.>
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Takigami et al. (2017) studied this question.
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