Patient 1
A 38-year old male (III.1) was referred to our Department of Clinical Genetics after cardiac surgery due to MVP with severe regurgitation. He was already known with MVP for seventeen years and he was seen on regular basis by his cardiologist. Physical examination revealed no signs of connective tissue disorders. Over time, his mitral regurgitation progressed and became severe and he had been referred to our Cardiology Department for evaluation prior to cardiac surgery. The echocardiogram before surgery revealed characteristics of Barlow’s disease, including MV bi-leaflet prolapse due to excessive tissue, severe MV annular dilatation and mitral annular disjunction (defined as an atrial implantation of the MV posterior leaflet), together with severe mitral regurgitation and left atrial dilatation (Figure 2A and C). He was therefore referred for surgical MV repair, which was successful and without complications. First degree family members were advised to undergo an echocardiogram to screen for MVP.