A 25-year-old male suffered from shortness of breath during normal physical activity. Auscultation showed a 4/6 grade systolic and diastolic murmur on the left lower sternal border. A previous two-dimensional transthoracic echocardiogram (2D TTE) revealed enhanced mitral valve thickening with severe stenosis and moderate regurgitation (mitral valve area: 0.9 cm2, transmitral gradient: 18 mmHg, E peak: 180 cm/s, A peak: 240 cm/s, regurgitation jet area: 5.0 cm2, and vena contracta width: 4.0 mm), left atrial enlargement (50 × 56 × 67 mm), and moderate pulmonary hypertension (pulmonary artery systolic pressure 64 mmHg). As 2D TTE images were suboptimal, real-time three-dimensional transoesophageal echocardiography (3D TEE) was performed using a Philips X7-2T probe. The TEE demonstrated mitral valve thickening and restricted motion (Panels A and B), with absent chordae tendinae. The 3D TEE showed that the mitral leaflets were directly adherent to the papillary muscles (Panel C), presenting a funnel-shaped stenosis during diastole (Panel D).
At surgical inspection, the mitral valve was obviously thickened and porcelain white (Panel E) with no anterior or posterior mitral leaflet chordae tendinae. There was severe subvalvular stenosis with direct leaflet adherence to the two papillary muscles (Panel F).
Isolated mitral chordae tendinae absence is very rare and often missed. Three-dimensional TEE can look from the left atrium and ventricle, to clearly demonstrate all mitral valve apparatus components and provide optimal visualization and detailed information on abnormal mitral valve anatomic structures.
Panel A. Two-dimensional TEE showed restricted motion of the mitral valve (AMVL, anterior mitral valve leaflet; PMVL, posterior mitral valve leaflet; PM, papillary muscles; LV, left ventricle; RV, right ventricle).
Panel B. Real-time 3D-colour flow imaging showed subvalvular colourful mitral flow in the diastole (arrow = colourful mitral flow; LV, left ventricle; LA, left atrium).
Panel C. Three-dimensional TEE showed that mitral leaflets were directly adherent to the papillary muscles (AMVL, anterior mitral valve leaflet; PMVL, posterior mitral valve leaflet; PM, papillary muscles; LV, left ventricle).
Panel D. Three-dimensional TEE looking from the left atrium showed the mitral valve presenting a funnel-shaped stenosis during diastole (AMVL, anterior mitral valve leaflet; PMVL, posterior mitral valve leaflet).
Panel E. At surgical inspection, the mitral valve was thickened and had a porcelain white appearance (AMVL, anterior mitral valve leaflet; PMVL, posterior mitral valve leaflet).
Panel F. At surgical inspection, the leaflet directly adhered to the posteromedial papillary muscles (MV, mitral valve; PM, papillary muscles; LVIT, left ventricular inflow tract).
Supplementary data are available at European Heart Journal – Cardiovascular Imaging online.
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