Current diagnosis and management of cardiac myxomas

Abstract

Cardiac myxoma is the most common cardiac neoplasm. In the majority of cases, it is isolated (non-syndromic) and located in the left atrium. In up to 10% cases, it is seen in syndromic association with the Carney complex where it is encountered in younger patients, with atypical and multiple locations, such as the right atrium or ventricles, and carries a high risk of recurrence. Imaging is pivotal in the diagnosis, management guidance and surveillance. Surgical excision is the established definitive treatment. Further research should address management strategies in incidentally discovered small myxomas in asymptomatic patients and the role of genetic testing and screening in syndromic myxomas.

Keywords:

• cardiac tumor
• Carney complex
• diagnosis
• echocardiography
• heart neoplasms
• myxoma
• pathology
• prognosis
• therapy

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Cardiac myxomas are the most commonly identified primary cardiac neoplasms.

• Most myxomas are isolated. In 3–10% cases, they are inherited in the syndromic context of the autosomal-dominant Carney complex.

• Distinguishing between the isolated and syndromic variants of myxoma is essential as it has significant implications for patient management, prognosis and family screening.

• Two-thirds of patients with Carney complex-associated myxomas have inactivating mutations of the PRKAR1A gene.

• Recent data suggests that loss of PRKAR1A protein expression may also play a role in isolated myxoma tumorigenesis.

• The clinical presentation is heterogeneous, varying from incidental discovery to devastating complications, such as embolic stroke, pulmonary embolus and visceral infarctions.

• Echocardiography is the first-line imaging modality for both initial diagnosis and subsequent scrutiny.

• Computed tomography and MRI can provide complementary and incremental imaging detail.

• Left atrial location with a characteristic attachment to the atrial septum is an important diagnostic clue.

• Surgical removal is the definitive therapy. Minimally invasive and possibly, percutaneous techniques are emerging.

• Because of the small but real risk of recurrence, we recommend long term, interval echocardiographic surveillance in all patients with a history of cardiac myxoma.

Notes