Evolution from mitral annular dysfunction to severe mitral regurgitation in Barlow's disease

OBJECTIVES: Barlow's disease (BD) is characterized by thick, redundant mitral valve (MV) leaflets, which can lead to prolapse and significant mitral regurgitation (MR). MV annular abnormalities are also commonly observed and increasingly recognized as possible primary pathology, with leaflet thickening being secondary to increased stress on the MV apparatus. To provide more insights into this hypothesis, the evolution of MV abnormalities over time in patients with BD was assessed. METHODS: A total of 64 patients (54 ± 12 years, 72% male) with BD who underwent MV surgery and had multiple transthoracic echocardiograms (TTE) before surgery were included. In total, 186 TTE were analysed (median time interval 4.2, interquartile range 2.2-6.5 years) including specific MV characteristics. RESULTS: At baseline, MV leaflet length, thickness, billowing height and annular diameter were larger in patients with BD compared to 59 healthy subjects. Systolic outward motion (curling) of the annulus was observed in 77% and severe mitral annular disjunction (≥5 mm) in 38% of patients with BD. Forty (63%) patients had MR grade I-II and 24 (37%) MR grade III-IV; at baseline, the 2 groups only differed in left atrial volume and in thickness and billowing height of the posterior leaflet, showing comparable MV annular abnormalities and dilatation despite different grades of MR. Over time, MV annulus diameter, leaflet length and billowing height increased significantly along with MR grade. CONCLUSIONS: In patients with BD, MV annulus abnormalities are present at an early stage and precede the development of significant MR, suggesting their substantial role in the pathophysiology of this disease and as an important target for surgical treatment.