Carney complex

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by ^1-4:

• cardiac myxoma

  • often multiple

  • seen in two-thirds of patients with Carney complex

• skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera  

Multiple other features are also well recognized including:

• extracardiac myxoma

  • breast

  • testis

  • thyroid

  • brain

  • adrenal gland: primary pigmented nodular adrenocortical disease (PPNAD)

• pituitary adenoma

• malignant melanotic nerve sheath tumor

• testicular tumors

  • Sertoli cell tumors: most common

• osteochondromyxoma

Epidemiology

Collectively there have been more than 750 cases of Carney complex reported worldwide however the exact prevalence is unknown ^6,7. One study of 353 patients found a female predilection (63%) ⁸.

Pathology

Carney complex has autosomal dominant inheritance with almost 100% penetrance, related to inactivating mutations or large deletions of the PRKAR1A tumor suppressor gene on chromosome 17q22-24 ^5,6. 

Mnemonic

One way to remember the differentiation between the Carney triad and the Carney complex is that the Carney Complex has Cardiac findings (myxoma).