Background <p>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.</p> Case presentation <p>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.</p> Conclusions <p>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.</p>

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

  • Qian Yao,
  • Bin Zhan,
  • Huimin Liu,
  • Liu Luo,
  • Lin Tang

摘要

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.