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

To enhance clinical recognition of a rare congenital defect involving the absence of mitral chordae tendineae and fusion of papillary muscles, which can lead to significant diagnostic challenges.

Key Findings:
  • TTE revealed severe mitral stenosis, absence of chordae tendineae, and fusion of papillary muscles.
  • Surgical findings confirmed the echocardiographic diagnosis, showing hypertrophied mitral leaflets directly attached to fused papillary muscles.
  • Postoperative TTE indicated improved hemodynamics and valve function, with reduced regurgitation.
Interpretation:

The case illustrates the critical role of TTE in diagnosing complex congenital heart anomalies, which can be easily misinterpreted as acquired conditions, potentially delaying appropriate treatment.

Limitations:
  • The rarity of the condition limits the generalizability of findings and may hinder awareness among clinicians.
  • Potential for misdiagnosis due to overlapping features with more common valvular diseases, emphasizing the need for thorough echocardiographic evaluation.
Conclusion:

This case underscores the importance of echocardiographic assessment in identifying congenital mitral valve anomalies, facilitating timely surgical intervention and improving patient outcomes.

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