Congenital mitral valve regurgitation in adult patients. A rare, often misdiagnosed but repairable, valve disease

Eur J Cardiothorac Surg. 2008 Oct;34(4):751-4. doi: 10.1016/j.ejcts.2008.06.014. Epub 2008 Aug 30.

Abstract

Objective: Congenital mitral valve regurgitation (MVR) is a rare disease occurring in infancy or childhood. Although congenital MVR has been described in adults, no surgical series has been reported so far. We describe here a 6-year surgical experience of congenital MVR in adults at a single institution.

Methods: We reviewed the data of 15 consecutive patients (8 men), aged more than 16 years (median: 38 years; range: 16-70 years) operated on for severe congenital MVR from June 2000 to March 2006. Congenital MVR represented 2.1% of mitral valve surgery performed in adults during the same period. Patients with atrio-ventricular septal defect or atrio-ventricular discordance were excluded.

Results: The congenital MVR was preoperatively diagnosed in six (40%) cases. Two (13%) patients had a Williams-Beuren syndrome. The lesions consisted in annular dilation (100%), prolapsed leaflet (87%), chordal abnormalities (80%), papillary muscle abnormalities (40%) or valvular cleft (33%). Mitral valve repair was performed in all cases using Carpentier's techniques. There was no hospital death or late mortality. At last follow-up (median: 60 months; range: 6-83 months), all patients were in NYHA functional class I or II and in a sinus rhythm. On transthoracic echocardiography, 11 (73%) patients had no or trivial MVR. Mild MVR was present in four (27%) patients. No patient was reoperated and endocarditis did not occur.

Conclusion: Congenital MVR is rare in adults, often misdiagnosed and accessible to valve repair with excellent mid-term results.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Echocardiography, Transesophageal
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Middle Aged
  • Mitral Valve Insufficiency / congenital*
  • Mitral Valve Insufficiency / diagnostic imaging
  • Mitral Valve Insufficiency / surgery*
  • Treatment Outcome
  • Young Adult