History and clinical findings: For some months a 57-year-old woman had noted increasing shortness of breath, associated in the last few weeks with undirected vertigo and several brief periods of lost consciousness. She was finally admitted because of additional central facial paresis. On auscultation a high-frequency systolic murmur was heard over the apex and a discrete diastolic murmur over Erb's point. There were numerous facial freckles and three cutaneous myxomas.
Investigations: Echocardiography revealed irregular tumours throughout the left atrium and a large broad-based one prolapsing through the mitrale valve in diastole. Computed tomography demonstrated a 6 x 6 cm tumour in the left lower abdomen, probably arising from the left ovary, and a second 3 x 3 cm presacral tumour.
Treatment and course: At cardiac surgery four tumours were found in the left atrium and resected: histologically they were benign myxomas. Removal required extensive resection in the area of the interatrial septum and the atrial wall, resulting in 2 degrees AV block for which a VDD pacemaker was implanted.
Conclusion: Atrial myxomas may be the cardinal sign of the Carney Complex, an autosomal dominant syndrome with cutaneous myxomas, myxoid abdominal tumours, hormone-producing tumours in the testicles, adrenal cortex or hypophysis, schwannoma as well as lentigines. For this reason, further tumours should be looked for if freckles and/or cutaneous tumours are found in association with an atrial myxoma. The patient and family should be informed about the genetic aspects.