title: Familial recurrent atrial myxoma: Carney's complex.
abstract: We report on a family of 4 members, all of whom have had multifocal, recurrent atrial myxomas associated with skin pigmentation, melanotic schwannomas, mucocutaneous myxomas, and tumors of the ovary and pituitary, adrenal, and thyroid glands. Immunochemistry of the myxoma cells is positive for calretinin, confirming their neuroendocrine origin. Genetic studies confirmed mutations in the gene coding protein kinase A, regulatory subunit 1-α (PRKAR1α). This is Carney's complex, characterized by multiple, mucocutaneous myxomas; pigmented lesions over the lips, conjunctiva, and genitalia; adenomas of the breast and thyroid; schwannomas; and endocrinal abnormalities including Cushing syndrome and acromegaly. Members of the family require vigorous screening, including urinary free cortisol, plasma transforming growth factor-β(1) and thyrotropin-releasing hormone, testicular ultrasound, routine echocardiographic screening, searches for cardiac and mucocutaneous myxomas in multiple locations, and genetic studies for the PRKAR1α gene sequence.
authors.affiliation: Pacific Coast Cardiology/Pacific Coast Imaging, Newport Beach, California. roynmd@yahoo.com
authors.forename: A Nagesh
authors.initials: AN
authors.lastname: Shetty Roy
authors.forename: Michael
authors.initials: M
authors.lastname: Radin
authors.forename: Dennis
authors.initials: D
authors.lastname: Sarabi
authors.forename: Emanuel
authors.initials: E
authors.lastname: Shaoulian
mesh_terms: D000328:Adult; D000368:Aged; D056733:Carney Complex / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics; D005260:Female; D006325:Heart Atria / Q000473:pathology*; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012008:Recurrence; D012307:Risk Factors
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human