Case Report: Transthoracic echocardiographic diagnosis of agenesis of mitral chordae tendineae with papillary muscle fusion - Takeaways - MDSpire

Case Report: Transthoracic echocardiographic diagnosis of agenesis of mitral chordae tendineae with papillary muscle fusion

  • By

  • Xinyu Xue

  • Meiling Liu

  • Meiju Zhang

  • Yunlong Cao

  • Jianbo Wu

  • Qian Liu

  • May 7, 2026

  • 0 min

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  • 1

    The case presents a rare congenital defect of absent mitral chordae tendineae and fused papillary muscles, diagnosed via transthoracic echocardiography.

  • 2

    The 50-year-old male patient experienced worsening exertional dyspnea and atrial fibrillation, leading to hospitalization and subsequent surgical intervention.

  • 3

    Transthoracic echocardiography revealed severe mitral stenosis, moderate-to-severe regurgitation, and pulmonary hypertension, confirming the congenital anomaly.

  • 4

    Surgical findings validated the echocardiographic diagnosis, showing excessive mitral leaflets directly anchored to fused papillary muscles without chordae.

  • 5

    Postoperative management included mechanical mitral valve replacement and tricuspid annuloplasty, resulting in a smooth recovery and improved hemodynamics.

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