Primary cardiac tumours are extremely rare when compared with metastatic involvement of the heart.
1,2 The majority of primary cardiac tumours are benign and in adults the majority of these masses are myxomas.
1 The treatment of myxomas is surgical removal because of the risk of embolisation and/or cardiovascular complications. In this report, we describe a young female presenting with systemic embolisation and recurrence of cardiac myxoma after surgery. Recurrence of myxoma is rare after surgery in case of solitary tumours but more frequent in patients with familial myxomas in association with the Carney complex. Subsequent genetic analysis in our patient revealed a mutation in the
PRKAR1A gene which has never been described before. However, it is not known whether this mutation is responsible for the production of an aberrant protein. We present this case because of the peculiar patient characteristics and the genetic rarity. …