Barlow Disease

by Karima Addetia, MD and Roberto M. Lang, MD 
Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL

Clinical Case

  • 61 year-old man with a history of hyperlipidemia and hypothyroidism
  • Complains of decreased exercise capacity of recent onset
  • CXR: Normal
  • EKG: Normal sinus rhythm. Heart rate 50 bpm. First-degree atrio-ventricular block
  • During the work-up, a transthoracic echocardiogram was ordered

2D 4-chamber view showing myxomatous degeneration of the mitral valve leaflets. The LV is severely dilated (LVEDD=69mm/ LVESD=46mm); LVEF=49%.

There appears to be bi-leaflet prolapse. Color Doppler across the mitral valve reveals eccentric mitral regurgitation

ERO (cm2) = 2πr2 x Aliasing velocity ÷ Peak MR velocity
2π(1.2)2 x 18.8 cm/s ÷ 559 cm/s = 0.30 cm2

PISA calculation revealed an ERO of 0.30cmconsistent with moderate mitral regurgitation. A transesophageal echocardiogram was then ordered to better characterize the mechanism of mitral regurgitation

2D Transesophageal mid-esophageal views at 0°, 45° and 135° are shown, from left to right. There is extensive myxomatous degeneration of both the anterior and posterior mitral leaflets. There also appears to be billowing of both anterior and posterior leaflets defined as systolic protrusion of the body of the leaflets above the annulus plane.

Color Doppler interrogation of the mitral valve performed in the same mid-esophageal positions as above suggest the presence of at least moderate mitral regurgitation which appears to originate form the central coaptation point.

2D Transesophageal mid-esophageal views at 0°, 45° and 135° are shown, from left to right. There is extensive myxomatous degeneration of both the anterior and posterior mitral leaflets. There also appears to be billowing of both anterior and posterior leaflets defined as systolic protrusion of the body of the leaflets above the annulus plane.

Color Doppler interrogation of the mitral valve performed in the same mid-esophageal positions as above suggest the presence of at least moderate mitral regurgitation which appears to originate form the central coaptation point.

Annulus
  • Height = 5.7 mm
  • Antero-posterior diameter = 5.9 cm
  • Area = 22 cm2
  • Perimeter = 17.5 cm
Leaflets
  • Anterior leaflet area = 15.6 cm2
  • Posterior leaflet area = 14.6 cm2
Prolapse volume = 11.6 mL
Prolapse height = 1.1 cm

Legend: MV mitral valve; AL anterior leaflet; PL posterior leaflet

Intra-operative findings. 

  • Both anterior and posterior leaflets were thickened, redundant and billowing
  • There was prolapse of the A3 and P3 segments. This segment was reconstructed using Gortex Neo-Chorde
  • The annulus was distorted
  • A #35 St. Jude Tailor posterior annuloplasty band was used

Key Messages

2D/Doppler echocardiography enabled:

  • Recognition of the presence of degenerative mitral valve disease with myxomatous mitral leaflets and widespread billowing
  • Quantification of mitral regurgitation
  • Quantification of left ventricular size and function

3D echocardiography allowed:

  • More detailed anatomic description of the extent of billowing with the added benefit of being able to visualize the mitral valve from the surgeon’s perspective
  • Quantification of annular and leaflet parameters if desired and construction of a leaflets model to better appreciate leaflet pathology

References

  1. Lang RM, Badano LP, Tsang W, et.al. EAE/ASE recommendations for image acquisition and display using three-dimensional echocardiography. J Am Soc Echocardiogr. 2012 Jan;25(1):3-46.

Dr Karima Addetia, MD, FRCPC

Dr. Karima Addetia is a Cardiologist and new Faculty member at the University of Chicago. She completed Medical School and Internal Medicine Residency at Memorial University of Newfoundland in St. John’s, Newfoundland and Cardiology and Echocardiography Fellowships at McGill University in Montreal. She then moved to Chicago and completed a fellowship in Advanced Imaging (including Cardiovascular Magnetic Resonance) and Research under the supervision of Dr. Roberto Lang. She now holds a Faculty position at the University of Chicago.