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

backgroundCardiac myxomas are common benign primary cardiac tumors; hereditary forms are strongly associated with the Carney complex. CASE SUMMARY: 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. DISCUSSION: This case highlights the aggressive, recurrent, and clinically heterogeneous phenotype and fatal course of Carney complex-associated cardiac myxoma. TAKE-HOME MESSAGE: Early recognition, lifelong surveillance, and timely consideration of advanced strategies are essential in selected patients with recurrent disease.