Primary cardiac Tumours are rare, being found in less than 0.1 % of autopsies. The most common Tumours is myxoma, which accounts for up to 50 % of the total. Most myxomas are sporadic and occur in the over-50 years age group. However, familial myxoma has been described and may occur as a dominant trait. Familial myxomas are more frequently multiple and have an earlier age at diagnosis (20–40 years) than in sporadic cases.
Cardiac myxomas occur in the autosomal dominantly inherited Carney complex type 1 (NAME syndrome (Carney complex)), which is characterized by the occurrence of cardiac myxoma, spotty pigmentation and cutaneous myxomas, and pituitary and adrenocortical Tumours (Carney 1995). Cardiac myxoma is the most serious complication of Carney complex, and all individuals at risk for familial cardiac myxoma should be screened regularly by echocardiography. Carney complex type 1 is caused by mutations in the protein kinase A regulatory subunit-1-alpha gene (PRKAR1A), and mutations in PRKAR1A have been described in familial cardiac myxoma without other features of Carney complex type 1 (Kirschner et al. 2000).
Cardiac rhabdomyomas are rare and most affected patients have tuberous sclerosis. These are usually asymptomatic, are most frequent in infants, and often involute with age.
Cardiac fibromas are a feature of Gorlin syndrome, although they occur in only a small proportion (approximately 3%) of patients with this disorder (Gorlin 1987, 1995).