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Medicine (Baltimore). 2019 Mar;98(11):e14866. doi: 10.1097/MD.0000000000014866.

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

Author information

1
Department of Cardiac Surgery, Liaocheng People's Hospital, Liaocheng, China.
2
Department of Central Laboratory, Liaocheng People's Hospital, Liaocheng, China.

Abstract

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.

PMID:
30882689
PMCID:
PMC6426518
DOI:
10.1097/MD.0000000000014866
[Indexed for MEDLINE]
Free PMC Article

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