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Rapid Development of a Giant Cardiac Myxoma in a Patient with Carney syndrome: a Case Report

Author(s): Messi P, Benzoni G, Bonalumi G, Fatti L, Heilbron F, Badano L, Fratianni G, Moneta A, Donatelli F

Carney Complex Syndrome is a rare genetic disorder that affects multiple organs and systems, including the endocrine glands, heart, and skin. The transmission of the syndrome is autosomal dominant, the gene involved in the mutation, in more than 60% of cases, is the PRKAR1A gene. We aim to present a 38-year-old female diagnosed with Carney syndrome since 2011. During April 2022, according to the cardiac screening plan, she underwent a transthoracic echocardiography, which did not show any cardiac tumors. However, in December 2022, the patient reported symptoms like dyspnea and palpitations. Immediately a new transthoracic echocardiography was performed, which revealed a large oval mass with heterogeneous echotexture and irregular margins in the left atrium, with a broad base of implantation at the interatrial septum, measuring 5 × 5, 5 cm. The mass cause obstruction to filling because was engaging in systole in the left ventricle. Additionally, a PFO, a common anatomical variant of interatrial septum, was found. The patient underwent cardiothoracic surgery to remove the myxoma and close the PFO via right mini thoracotomy, few days after. The surgery was successful, and the patient had good results in subsequent follow-up. In this article we aim to focus attention on the need to perform echocardiographic follow-up in a short time in patient with a familiar history of neoplasm involving myxoma, to preserve the patient from major compliances, especially reduce the risk of sudden cardiac death.

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CiteScore: 2.9

Acceptance Rate: 11.01%

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    Editor In Chief

    Yasuo Iwasaki

  • Division of Neurology, Department of Internal Medicine
    Toho University School of Medicine
    Ota-ku, Tokyo, Japan

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