Carney Complex is a rare genetic disorder that affects multiple organs and tissues in the body. It is characterized by the development of various benign tumors, known as myxomas, in the heart, skin, and other parts of the body. These myxomas can cause a range of symptoms depending on their location.
Cardiac myxomas are the most common feature of Carney Complex and can lead to heart-related symptoms such as palpitations, shortness of breath, and chest pain. These tumors may require surgical removal to alleviate symptoms and prevent complications.
In addition to cardiac involvement, Carney Complex can also cause skin myxomas, which are typically painless and appear as small, raised bumps on the skin. Other common features of the condition include endocrine overactivity, such as excessive production of certain hormones, and pigmented lesions on the skin.
Carney Complex is caused by mutations in certain genes, including the PRKAR1A gene. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
Diagnosis of Carney Complex involves a combination of clinical evaluation, imaging tests, genetic testing, and biopsy of suspicious tumors. Treatment focuses on managing symptoms and may involve surgical removal of tumors, hormone regulation, and regular monitoring for potential complications.