Familial hereditary cardiac myxoma: report of three cases and literature review.

BACKGROUND

Cardiac myxoma, the most common primary benign cardiac tumor, carries a risk of embolization and can be life-threatening. It typically arises in the left atrium but may involve any cardiac chamber. Myxomas may occur sporadically, have familial origins, or present as part of Carney's syndrome.

CASE PRESENTATION: Three cases of cardiac myxoma are presented; two involved a father-daughter pair with familial myxoma, while one patient presented with acute exacerbation and was diagnosed postoperatively. Echocardiography and Computed Tomography Angiography (CTA) revealed intracardiac space-occupying lesions suggestive of myxoma. Elective atrial resection was performed under cardiopulmonary bypass; histopathology confirmed the diagnosis. Genetic testing identified a Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha (PRKAR1A) gene mutation.

CONCLUSIONS

Paternal-to-daughter transmission of PRKAR1A mutations is uncommon compared with typical familial cardiac myxomas. All three cases in this series represent this transmission pattern. Surgical resection resulted in a favorable recovery without sequelae. Timely diagnosis and intervention are essential to prevent complications, and regular follow-up is necessary to detect recurrence. This study reports three cases of familial cardiac myxoma and includes a literature review.