Case Report: An Atypical Case of Carney Complex

Area of Science:

• Cardiology
• Genetics
• Dermatology

Background:

• Intracardiac tumors are rare, with myxomas being the most common type.
• Myxomas, often left atrial, can cause heart failure or emboli.
• Carney complex (CNC) is an inherited syndrome involving myxomas and other tumors.

Observation:

• A 54-year-old male presented with cough, dyspnea, palpitations, and skin lesions.
• Chest X-ray revealed a retrocardiac density, confirmed as a left atrial myxoma via echocardiography.
• Genetic testing for PRKAR1A mutation was negative, but clinical criteria for CNC were met.

Findings:

• The patient had a left atrial myxoma and spotty skin pigmentation, fulfilling 2 major clinical criteria for Carney complex.
• CNC can be diagnosed clinically based on characteristic manifestations, even without a confirmed genetic mutation.
• PRKAR1A gene mutations are common in CNC but not always present.

Implications:

• Early recognition of cutaneous manifestations in patients with cardiac tumors can suggest Carney complex.
• Clinical diagnosis of CNC is possible, guiding timely treatment and surveillance.
• Surveillance for neoplasia development is crucial in patients diagnosed with Carney complex.