Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree.

RATIONALE

Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection.

PRESENTING CONCERNS

The recurrence of cardiac myxoma was detected in a 45-year-old male by echocardiography 5 years after the resection was carried out, without any additional symptoms. Family screening indicated that his brother and his brother's son also had a history of cardiac myxoma.

DIAGNOSIS

The echocardiography of the patient showed a 43 mm × 28 mm echo mass at the bottom of the atrial septum near anterior mitral leaflet. Sequencing of the patient's genomic DNA obtained from peripheral blood identified a p.E17X (c.491-492delTG) mutation in PRKAR1A, which encodes the type Iα regulatory subunit of protein kinase A.

INTERVENTIONS

The patient received redo cardiac myxoma resection and mitral valve repair under cardiopulmonary bypass. Echocardiographic surveillance was conducted after the surgery.

OUTCOMES

The patient recovered quickly after the surgery and was discharged without any abnormality detected by echocardiography. Follow-up after 1 year showed no recurrence of the cardiac myxoma.

MAIN LESSON

We recommend echocardiographic surveillance of the affected individuals and their first-degree relatives at regular intervals, given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location.