Why the study?
Most cardiac myxomas are sporadic, solitary, and have a low recurrence risk, whereas recurrent, multiple, or atypically located tumours should raise suspicion for an underlying hereditary syndrome such as Carney complex.
Young age at presentation, atypical locations, or multiple recurrences of cardiac myxoma should prompt genetic evaluation for Carney complex and lifelong echocardiographic surveillance.
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May prompt PRKAR1A testing in recurrent myxomas; leaves open optimal surveillance protocols for Carney complex.
Background Cardiac myxomas are rare but represent the most common primary cardiac tumour. Most are sporadic, solitary, and associated with a low risk of recurrence. Recurrent, multiple, or atypically located cardiac myxomas should raise suspicion of an underlying hereditary syndrome, particularly Carney complex. Case summary a 24-year-old man presented with pulmonary embolism caused by a right atrial cardiac myxoma and underwent complete surgical resection. Fourteen years later, he presented with systemic peripheral arterial emboli due to a left atrial myxoma and again underwent surgery. At routine echocardiographic follow-up two years later, an asymptomatic recurrent atrial myxoma was detected and he underwent his third cardiac surgery. Genetic evaluation subsequently identified a likely pathogenetic PRKAR1A variant, molecularly confirming the diagnosis of Carney complex. Discussion Recurrence after complete resection of sporadic myxoma is uncommon, and routine long-term echocardiographic surveillance is therefore not universally recommended. However, young age at presentation, recurrent or multiple tumours, atypical cardiac locations, or other features suggestive of Carney complex should prompt genetic evaluation and closer follow-up. Recognition of Carney complex has important implications for lifelong surveillance and multidisciplinary management.
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Haastrup et al. (2026) studied this question.
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