Multiple endocrine neoplastic syndrome.
Spotty skin pigmentation, cardiac and peripheral myxomas, schwannomas and endocrine activity.
Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin and endocrine organ overactivity.
Approximately 7% of all cardiac myxomas are associated with Carney complex.
Associated with spotty skin pigmentation and lentigines.
Skin lesions occur most commonly on the face, lips, eyelids, conjunctiva, and oral mucosa.
Cardiac myxomas may lead to embolic strokes and heart failure.
Patients may present with fever, joint pain, shortness of breath, diastolic rumble, and tumor plop.
Myxomas may also occur outside the heart, usually in the skin and breast.
Endocrine tumors may manifest as disorders such as Cushing syndrome.
Associated acronyms are LAMB and NAME-lentigines, atrial myxomas, blue nevi, and Nevis, atrial myxoma, myxoid neurofibromas, and ephelides, respectively.
Associated with Sertoli cell testicular cancer, thyroid and pancreatic cancer.
Most commonly caused by mutations in the PRKAR1A gene on chromosome 17q23-q24, which may function as a tumor-suppressor gene.
The encoded protein is a type 1A regulatory subunit of protein kinase A.
Inactivating germline mutations of the PRKAR1A gene are found in 70% of patients.
Less commonly, there is genetic changes at chromosome 2p16.
Carney complex is an autosomal dominant disorder.
There are no phenotypic differences between PRKAR1A and chromosome 2p16 mutations.
Cardiac myxomas associated with recurrences within the heart, and often far away from the site of the initial tumor.