What are the other Names for this Condition? (Also known as/Synonyms)

• Complex of Cardiac Myxomas, Endocrine Overactivity, and Spotty Pigmentation
• Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus (LAMB) Syndrome
• Nevi, Atrial Myxoma, Myxoid Neurofibromas, and Ephelides (NAME) Syndrome

What is Carney Complex? (Definition/Background Information)

• Carney Complex comprises a combination of medical conditions that includes multiple tumors, such as myxomas, schwannomas, endocrine disorders, and pigmented skin conditions
• It is a highly infrequent autosomal dominant (genetic) disorder. And, because the condition is so rare, the diagnosis is often delayed in a given individual
• Individuals have a type of tumor called myxomas that can affect the skin or the heart. If it affects the skin it is known as cutaneous myxoma, and if the heart is affected, then it is known as cardiac myxoma
• A treatment regimen has to be planned for Carney Complex based on the symptoms an individual develops and the tumor types present. The prognosis depends on many factors and is usually guarded
• Carney Complex is an inherited genetic condition and currently no preventative methods are available

Who gets Carney Complex? (Age and Sex Distribution)

• Carney Complex is a very rare genetic condition; less than 1000 cases have been diagnosed worldwide
• There is no known gender, racial, or ethnic preference

What are the Risk Factors for Carney Complex? (Predisposing Factors)

A positive family history of Carney Complex increases one’s risk of the condition.

 It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Carney Complex? (Etiology)

• The exact cause and development of Carney Complex is unknown
• It is a genetic disorder, which is inherited in an autosomal dominant manner
• The defective gene that causes Carney Complex is called CNC1 gene and CNC2 gene. The CNC1 gene is also called BRKAR1A (and PRKAR1A)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Carney Complex?

Carney Complex is known as a Complex of Cardiac Myxomas, Endocrine Overactivity, and Spotty Pigmentation. It presents a wide variety of signs and symptoms:

• The skin condition includes multiple freckles, presence of blue nevus, and pigmented patches, throughout the body. The pigmented patches can occur in the lips, the conjunctiva (white of the eye), and genital mucosa. It has to be noted that not all individuals may have these pigmented skin conditions; implying that, some may have none
• The myxoma of skin can occur in the ear canal and on the eyelids
• Cardiac myxomas usually occur in the ventricular chamber of the heart; these tumors can cause electrical problems in the heart, called arrhythmias
• The endocrine disorders seen in individuals with Carney Complex include:
  • Primary pigmented nodular adrenal hyperplasia causing Cushing’s syndrome, which can either affect one or both the adrenal glands
  • Acromegaly in adults, due to increased growth hormone production
  • Thyroid neoplasms
  • Precocious puberty in adolescents
  • Tumor of the testis, like large cell calcifying sertoli cell tumor of the testis; which can affect either one, or both the testicles
• Individuals can also have other types of tumors that include the following:
  • Psammomatous melanotic schwannoma affecting 1 in 5 patients - this tumor can occur in various parts of the body including the gastrointestinal tract, skin, and the nervous system
  • 1 in 4 women can have a benign tumor of breast, called myxoid mammary fibroadenoma

How is Carney Complex Diagnosed?

The diagnostic tests may vary and is based on many factors. A diagnosis of Carney Complex may involve:

• Physical examination, evaluation of the individual’s medical history
• Complete blood count (CBC) test
• Testing for various hormonal levels in the body based on one’s signs and symptoms. The hormonal levels tested would include:
  • Thyroid hormonal levels
  • Adrenal hormone levels
  • Pituitary gland hormone function test
  • Hypothalamus gland function test
• Skin biopsies of the pigmented skin lesions
• Tissue biopsies of the tumor - the specimen is examined under a microscope by a pathologist, to arrive at a definitive diagnosis
• Radiological scans are necessary in case of the following conditions:
  • Echocardiogram of heart, if a heart tumor is suspected
  • CT scan and ultrasound scan of abdomen, if an abdominal tumor is suspected
  • Ultrasound scan of testis, if a testicular tumor is suspected
  • Mammogram of breast, in case a breast tumor is suspected

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Carney Complex?

Complications due to Carney Complex could include:

• Heart failure
• Metastasis of various tumors that could result in death
• Brain stroke, due to blood clots

How is Carney Complex Treated?

The treatment of Carney Complex depends upon the combination of tumors and underlying endocrine disorders. The treatment measures may include:

• Heart surgery for removal of heart tumors
• Tumors on other parts of the body can be treated with a combination of surgery, chemotherapy and radiation therapy, depending on the type and location of tumor

The healthcare provider will be the best judge to determine a treatment plan.

How can Carney Complex be Prevented?

• Currently, there are no specific methods or guidelines to prevent Carney Complex genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• If an individual is diagnosed with Carney Complex, then it is important to screen close blood relatives of the patient too

What is the Prognosis of Carney Complex? (Outcomes/Resolutions)

• The prognosis for Carney Complex depends upon the location and type of tumors and the combination of signs and symptoms in any given individual
• In general, the presence of cardiac myxomas indicates a poorer prognosis, with an average life expectancy of 31 years (in such individuals). In such cases, death usually occurs due to:
  • Heart failure
  • Electrical abnormalities of the heart (arrhythmias)
  • Embolization of the heart tumors - the heart tumors break-off into small pieces and cause thromboembolism, in various organs of the body, including the brain

Additional and Relevant Useful Information for Carney Complex:

The subsets of Carney Complex are known as:

• LAMB Syndrome, which is “Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome”
• NAME Syndrome that stands for “Nevi, Atrial Myxoma, Myxoid Neurofibromas, and Ephelides Syndrome”