Mitral Valve Repair in a Patient with Hereditary Haemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome and Osler disease , is an autosomal dominant genetic disorder that leads to abnormal blood vesselformation in the skin, mucous membranes, and affects vital organs such as thelungs, liver, and brain. The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described this condition in the late 19th and early 20th centuries.

This may lead to epistaxis, hemoptysis, intracranial bleeding and gastrointestinal tract bleeding. Treatment focuses on controlling bleeding and other targeted interventions such as surgery, laser therapy and endovascular interventions to remove arteriovenous malformations in organs. In cardiac surgery, the number of reported cases with Osler’s disease remains small. We reported this complicated case of HHT with mitral valve regurgitation that was successfully treated by mitral valve repair.

Case Report:

A 65 year old man was diagnosed with severe mitral regurgitation when he attended his General Practitioner with exercise related dyspnoea. Echocardiography confirmed the presence of leaflet prolapse. When aged 63, he was diagnosed with HHT after experiencing several episodes of epistaxis. Other current medical history included polymyositis rheumatica and asthma. His medication included tranexamic acid 100 mg three times a day, prednisolone 15 mg once daily, thalidomide 50mg once daily, salbutamol inhaler four times a day and Calcium and Iron supplement. Read more......