Assess Carney Complex diagnostic criteria score based on clinical findings. Evaluate skin pigmentation, cardiac myxomas, endocrine tumors, and genetic markers.
The Carney Complex Calculator evaluates diagnostic criteria for Carney Complex (CNC), a rare autosomal dominant multiple neoplasia syndrome. It helps clinicians and trainees organize the major and supplemental findings that support the diagnosis, rather than trying to keep every criterion in memory. That makes it easier to review a rare syndrome in a structured way before confirming whether the published criteria are met. It also helps keep a rare diagnostic checklist readable when multiple organ systems and findings are involved.
Carney Complex is characterized by spotty skin pigmentation (lentigines, blue nevi), cardiac and extracardiac myxomas, endocrine tumors (primary pigmented nodular adrenocortical disease/PPNAD, growth hormone-producing pituitary adenomas, thyroid tumors), psammomatous melanotic schwannomas, and other neoplasms. Diagnosis requires two or more major criteria, or one major criterion plus a confirmed PRKAR1A mutation or an affected first-degree relative.
Enter clinical findings to calculate the diagnostic score, review which criteria are met, and understand the significance of each finding. This tool supports structured screening and documentation, but definitive diagnosis still requires genetic testing and specialist evaluation.
Use this calculator when you need a structured checklist against the published diagnostic criteria rather than reviewing each feature manually. It is useful for organizing clinical findings, documenting which major criteria are present, and deciding when genetics, cardiology, endocrinology, or specialist follow-up should be considered. It also helps keep a rare-disease workup readable when several findings have to be reviewed together in one note.
Diagnosis requires: ≥2 major clinical criteria, OR 1 major criterion + PRKAR1A pathogenic variant, OR 1 major criterion + affected first-degree relative. Major criteria include: spotty skin pigmentation, cardiac myxoma, breast myxomatosis, PPNAD, GH-producing adenoma, psammomatous melanotic schwannoma, blue nevus (multiple/epithelioid), breast ductal adenoma, osteochondromyxoma.
Result: 2 major criteria met — diagnosis supported
Two major criteria (spotty skin pigmentation + cardiac myxoma) meet the diagnostic threshold for Carney Complex. Genetic testing for PRKAR1A mutation recommended for confirmation.
The diagnosis of CNC requires clinical criteria supported by genetic and family data. Major criteria include: (1) spotty skin pigmentation with typical distribution (lips, conjunctivae, genital mucosa), (2) myxoma (cutaneous, cardiac, or breast), (3) primary pigmented nodular adrenocortical disease (PPNAD), (4) acromegaly due to GH-producing adenoma, (5) large-cell calcifying Sertoli cell tumor, (6) thyroid carcinoma or nodules in a young patient, (7) psammomatous melanotic schwannoma, (8) blue nevi (multiple or epithelioid), (9) breast ductal adenoma, (10) osteochondromyxoma.
Supplemental criteria include: affected first-degree relative, inactivating mutation of PRKAR1A gene, and paradoxical GH/cortisol responses to dexamethasone.
PRKAR1A sequencing is the primary genetic test. Over 125 different pathogenic variants have been identified, including nonsense mutations, frameshift mutations, and splice-site variants. Approximately 70% of individuals meeting clinical criteria will have a detectable PRKAR1A mutation. Negative genetic testing does not exclude the diagnosis, as other genetic loci may be involved.
Management of CNC is multidisciplinary, involving endocrinology, cardiology, dermatology, and genetics. Cardiac myxomas pose the greatest acute risk due to embolization and obstruction. Annual echocardiography is the cornerstone of surveillance. Endocrine tumors are managed based on hormone excess — surgical excision for PPNAD, pituitary adenomas, and thyroid tumors as indicated.
Carney Complex affects approximately 1 in 100,000 people. Over 750 cases have been reported in the literature. It follows autosomal dominant inheritance with variable expressivity, meaning affected family members may show different features.
About 70% of cases are caused by inactivating mutations in PRKAR1A on chromosome 17q24.2, which encodes the regulatory subunit of protein kinase A. The remaining 30% may involve other loci, including a region on chromosome 2p16.
Primary Pigmented Nodular Adrenocortical Disease is a form of ACTH-independent Cushing syndrome unique to Carney Complex. The adrenal glands contain small (<4mm) pigmented nodules. It can present at any age but is most common in the second and third decades.
Yes. Unlike sporadic cardiac myxomas (which are typically single, left atrial, in older women), CNC myxomas can be multiple, affect any cardiac chamber, occur at any age, and recur after excision. Regular echocardiographic surveillance is essential.
Annual echocardiography, annual cortisol evaluation (dexamethasone suppression test), thyroid ultrasound every 3-5 years, annual testicular ultrasound in males, clinical examination for skin findings, and monitoring of IGF-1/GH levels. Follow-up is typically coordinated by endocrinology, cardiology, and genetics.
There is no cure for the genetic condition, but individual tumors can be treated surgically. Bilateral adrenalectomy treats PPNAD. Cardiac myxomas are excised but may recur. Lifelong surveillance is required for early detection of new tumors.