Four Synchronous Myxomas Unmasking Carney Complex: When to Think About Carney Complex?

BACKGROUND: Cardiac myxomas are the most common primary cardiac tumors and are usually solitary and sporadic. The presence of multiple synchronous lesions should raise suspicion for an underlying syndromic condition such as Carney complex (CNC). CASE SUMMARY: A 39-year-old asymptomatic man underwent transthoracic echocardiography for recurrent ventricular extrasystoles on electrocardiogram, which incidentally revealed multiple intracardiac masses. Multimodality imaging, including transesophageal echocardiography, computed tomography, and cardiac magnetic resonance, identified 4 distinct, highly mobile lesions involving the left ventricle, the mitro-aortic curtain, and left atrium, with features suggestive of myxomas. Given the high embolic risk, surgical excision was performed with concomitant mitral valve repair. Histopathological analysis confirmed cardiac myxomas, whereas immunohistochemistry showed reduced protein kinase A regulatory subunit 1-alpha expression. Genetic testing subsequently identified a protein kinase A regulatory subunit 1-alpha autosomal mutation, establishing the diagnosis of CNC. DISCUSSION: This case underscores the importance of multimodality imaging for accurate diagnosis and surgical planning. The detection of multiple synchronous cardiac masses should prompt genetic evaluation and long-term surveillance for CNC in clinical practice, because this syndrome may lead to endocrinological diseases such as Cushing syndrome and malignant endocrine tumors.