Carney complex

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Overview

Carney complex is an autosomal dominant condition comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity (Carney et al, 1985; McCarthy et al, 1986). It must be differentiated from Carney syndrome (also known as Carney triad). Approximately 7% of all cardiac myxomas are associated with Carney complex(Reynen 1995).

Pathophysiology

The majority of cases of Carney complex are caused by mutations in the PRKAR1-α gene on chromosome 17q24, which has been suggested to function as a tumor-suppressor gene.

Clinical Features

The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva, and oral mucosa (McCarthy et al, 1986). Cardiac myxomas may lead to embolic strokes and heart failure (Reynen, 1995) and 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.

Treatment

Cardiac myxomas can be difficult to remove surgically because of recurrence within the heart, often far away from the site of the initial tumor. (McCarthy et al, 1986; Reynen, 1995).

Related Disorders

LAMB (lentigines, atrial myxoma, mucocutaneous myxoma, blue nevi) and NAME (nevi, atrial myxoma, myxoid neurofibromata, ephelides) syndromes are considered variants of Carney complex.

References

  • Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL (1985). "The complex of myxomas, spotty pigmentation, and endocrine overactivity". Medicine (Baltimore). 64 (4): 270–83. PMID 4010501.
  • McCarthy PM, Piehler JM, Schaff HV, Pluth JR, Orszulak TA, Vidaillet HJ Jr, Carney JA (1986). "The significance of multiple, recurrent, and "complex" cardiac myxomas". J Thorac Cardiovasc Surg. 91 (3): 389–96. PMID 3951243.
  • Reynen K (1995). "Cardiac myxomas". N Engl J Med. 333 (24): 1610–7. PMID 7477198.
  • Stratakis CA, Kirschner LS, Carney JA (2001). "Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation". J Clin Endocrinol Metab. 86 (9): 4041–6. PMID 11549623.

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