Clinical Heterogeneity of Recurrent Familial Cardiac Myxoma in PRKAR1A-Related Carney Complex

Cardiac myxomas are common benign primary cardiac tumors; hereditary forms are strongly associated with the Carney complex.

A 42-year-old woman with familial Carney complex and a pathogenic PRKAR1A variant developed recurrent cardiac myxomas involving 3 of the 4 chambers. The first presentation featured left atrial and right ventricular myxomas causing cardioembolic cerebellar stroke. A first recurrence in the left atrium caused severe transmitral obstruction and decompensated heart failure. A second recurrence in the right atrium presented as an infected myxoma. A third recurrence arose from the tricuspid annulus 4 months after resection; because further reoperation after 2 prior sternotomies and a right thoracotomy was considered prohibitive, she was listed for transplantation but died suddenly while awaiting transplant.

This case highlights the aggressive, recurrent, and clinically heterogeneous phenotype and fatal course of Carney complex-associated cardiac myxoma.

Early recognition, lifelong surveillance, and timely consideration of advanced strategies are essential in selected patients with recurrent disease.