Positive genetic test led to an early diagnosis of myxoma in a 4-year-old boy

Less than 10% of cardiac myxomas are familial. These familial cases are related to Carney complex, a multiple neoplasia and lentiginosis syndrome. Mutations in the PRKAR1alpha gene are the cause of Carney complex in most patients. We report a boy, who had PRKAR1alpha gene mutation, and atrial myxoma that was diagnosed in a routine echocardiographic study at the age of four years. Surgical excision of myxoma was performed. This case demonstrates the benefit of screening genetically the kindreds of patients with familial myxomas, and the importance of close follow-up of individuals affected with this mutation irrespective of age.