Carney Complex

The prevalence of Carney complex (CNC) is unknown. CNC is a rare disease, though more than 700 individuals with CNC are known, including cases from North and South America, Europe, Australia, and Asia.

CNC is associated with skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. The most common skin pigmentary abnormality in CNC is pale brown to black lentigines which can appear anywhere on the body including the face, lips, and mucosa. Other skin pigmentary abnormalities include epithelioid-type blue nevi, combined nevi, café au lait macules, and depigmented lesions. Most individuals with CNC have multiple myxomas which can occur on the heart, skin, and breast (typically bilateral). Cardiac myxomas can manifest as obstruction of blood flow, embolic phenomenon, heart failure, and sudden death due to occlusion of a valvular orifice. Other sites for myxomas are the oropharynx, nipple, female genital tract, and bone (usually in nasal sinuses and long bones). Primary pigmented nodular adrenocortical disease (PPNAD) is the most common endocrine tumor, is usually bilateral, and causes Cushing syndrome. Other endocrine tumors include growth hormone (GH)-producing adenoma (acromegaly), large-cell calcifying Sertoli cell tumors (LCCSCTs; often multicenter, bilateral, and typically benign), multiple thyroid nodules (mostly nonfunctioning thyroid follicular adenomas), and ovarian cysts. Thyroid carcinomas, both papillary and follicular, can occur. Papillary carcinoma can be multiple and sometimes quite aggressive. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, may occur anywhere in the central and peripheral nervous system; it is most frequently found in the nerves of the gastrointestinal tract and paraspinal sympathetic chain. Breast ductal adenoma is a benign tumor of the mammary gland ducts and is also seen in CNC.

Lentigines are the most common presenting feature of CNC and may be present at birth. Typically, they increase in number at puberty, fade after the fourth decade, but may still be evident in the eighth decade. Cutaneous myxomas appear between birth and the fourth decade. Cardiac myxomas may occur at a young age. Breast myxomas occur in females after puberty. Males and females may develop nipple myxomas at any age. In a minority of individuals, PPNAD presents in the first two to three years; in the majority, it presents in the second or third decade. LCCSCT often present in the first decade. Signs and symptoms of CNC may be present at birth, but the median age of diagnosis is 20 years. Most patients with CNC present with a mild increase in GH. However, clinically evident acromegaly is a relatively frequent manifestation of CNC, occurring in approximately 10% of adults at the time of presentation. Most individuals with CNC have a normal life span. However, because some die at an early age, the average life expectancy for individuals with CNC is 50 years. Causes of death include complications of cardiac myxoma (myxoma emboli, cardiomyopathy, cardiac arrhythmia, and surgical intervention), metastatic or intracranial PMS, thyroid carcinoma, and metastatic pancreatic and testicular tumors.

Autosomal Dominant

Unknown Unknown

>= 40 % >= 40 % >= 40 %

1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
Yes
No
2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?
Yes
No

a. Patient Management

Yes
No

b. Surveillance or Screening

Yes
No

c. Circumstances to Avoid

Yes
No
3. Is it actionable in an undiagnosed adult with the condition?
Yes
No
4. Is this condition an important health problem?
Yes
No
5. Is there at least on known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?
Yes
No
Unknown