This case study presents a rare congenital defect characterized by the complete absence of mitral chordae tendineae and fusion of papillary muscles, diagnosed via transthoracic echocardiography (TTE). The findings were confirmed during surgery, leading to successful mechanical valve replacement and tricuspid annuloplasty.
Background
Congenital Mitral Valve Dysplasia is a rare condition, comprising only 0.2–0.4% of congenital heart anomalies, and often presents diagnostic challenges due to its morphological diversity. The absence of chordae tendineae can lead to severe mitral dysfunction, which may be misinterpreted as acquired valvular disease. Understanding this anomaly is crucial for timely intervention and effective management.
Fusion of papillary muscles was observed, contributing to severe mitral stenosis and regurgitation.
The patient exhibited significant left atrial enlargement and reduced left ventricular ejection fraction.
Surgical intervention included mechanical mitral valve replacement and tricuspid annuloplasty, resulting in a smooth recovery.
This case underscores the importance of TTE in identifying rare congenital heart defects.
Clinical Implications
Healthcare professionals should consider congenital mitral valve anomalies in patients presenting with unexplained mitral dysfunction. Early and accurate diagnosis via TTE can facilitate timely surgical intervention, improving patient outcomes.
Conclusion
This case highlights the critical role of transthoracic echocardiography in diagnosing rare congenital heart defects, emphasizing the need for awareness and understanding of such anomalies in clinical practice.
