Abstract
We report an illustrated case of a 61-year-old woman with multiple atrial myxomas and cutaneous hyperpigmentation as part of the Carney complex. The case is notable for an unusually late presentation in life and a strong family history of atrial myxomas and sudden death. The importance of regular life-long echocardiographic screening and surveillance in all family members of affected cases is emphasized.
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Breast Neoplasms / genetics
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Breast Neoplasms / surgery
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Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
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Cyclic AMP-Dependent Protein Kinases / genetics*
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DNA Mutational Analysis
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Death, Sudden, Cardiac
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Female
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Fibroadenoma / genetics
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Fibroadenoma / surgery
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Genes, Dominant
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Genetic Testing
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Heart Atria / diagnostic imaging
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Heart Atria / surgery
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Heart Neoplasms / diagnostic imaging
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Heart Neoplasms / epidemiology
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Heart Neoplasms / genetics*
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Heart Neoplasms / surgery
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Humans
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Hyperpigmentation / epidemiology
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Hyperpigmentation / genetics*
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Lentigo / genetics
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Male
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Middle Aged
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Myxoma / diagnostic imaging
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Myxoma / epidemiology
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Myxoma / genetics*
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Myxoma / surgery
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Neoplasms, Multiple Primary / diagnostic imaging
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Neoplasms, Multiple Primary / epidemiology
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Neoplasms, Multiple Primary / genetics*
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Neoplasms, Multiple Primary / surgery
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Neoplastic Syndromes, Hereditary / diagnosis
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Neoplastic Syndromes, Hereditary / epidemiology
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Neoplastic Syndromes, Hereditary / genetics*
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Nevus, Pigmented / genetics
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Pedigree
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Ultrasonography
Substances
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Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
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PRKAR1A protein, human
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Cyclic AMP-Dependent Protein Kinases