Identification of a PRKAR1A mutation (c.491_492delTG) in familial cardiac myxoma: A case report

摘要

Rationale: Cardiac myxoma is the most common cardiac neoplasm. Currently, there are not many reports on familial cardiac myxoma . Herein, we reported 2 first-degree relatives with left atrial myxoma. Patient concerns: A 20-year-old female was admitted in our hospital for lapsing into a coma for 24 hours, and was diagnosed with recurrent left atrial cardiac myxoma . The patient's father also had a history of cardiac myxoma . Diagnosis : The patient was diagnosed with left atrial myxoma using transthoracic echocardiography (TTE). Whole exome sequencing (WES) identified a p.Val164Aspfs (c.491-492delTG) mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 ( PRKAR1A ) gene for both the proband and her father, but not in her uncle and brother, who had not shown manifestation of cardiac myxoma by the time of this report. Interventions: The myxoma resection was performed following the standard procedure of open chest surgery. Outcomes: The tumor was successfully removed along with the tuberculum. The patient recovered well and was discharged home. No recurrence occurred during 1-year follow-up. Lessons: Our findings suggest that PRKAR1A mutation (c.491_492delTG) may be associated with cardiac myxoma , and genetic counseling and specific locus mutation tests may contribute to assessing the risk of cardiac myxoma .