Differential Diagnosis for Mitral Valve Abnormality

The clinical presentation of a 2-month-old infant with tachypnea, failure to thrive, cardiomegaly, pulmonary edema, moderate mitral stenosis, and severe mitral regurgitation suggests a congenital mitral valve anomaly. The following differential diagnoses are considered:

• Single most likely diagnosis
  • Parachute mitral valve: This condition is characterized by a unifocal attachment of the mitral valve chordae to a single papillary muscle, leading to mitral stenosis and regurgitation. The symptoms and echocardiogram findings in this case are consistent with a parachute mitral valve, making it the most likely diagnosis.
• Other Likely diagnoses
  • Cleft in mitral valve: A cleft in the mitral valve can cause mitral regurgitation, but it may not fully explain the mitral stenosis. However, it is still a possible cause of the symptoms and should be considered.
  • Supravalvar mitral ring: This is a rare congenital anomaly that can cause mitral stenosis, but it is less likely to cause severe mitral regurgitation.
• Do Not Miss
  • Arcade mitral valve: Although less common, an arcade mitral valve can cause significant mitral stenosis and regurgitation. Missing this diagnosis could lead to delayed treatment and poor outcomes.
• Rare diagnoses
  • Other congenital mitral valve anomalies: There are several other rare congenital mitral valve anomalies, such as double-orifice mitral valve or mitral valve dysplasia, that could potentially cause the symptoms. However, these are less likely and would require further evaluation to confirm.