A case of osteopetrosis with severe aortic stenosis treated by transcatheter aortic valve implantation.

Osteopetrosis is a rare hereditary disease characterized by osteoclast dysfunction and consequently diminished bone resorption and disturbed bone building and remodeling, resulting in abnormally dense and brittle bones. Pathologic fractures are common in patients with osteopetrosis. We report a case of benign adult form of osteopetrosis with severe aortic stenosis (AS) and coronary artery disease (CAD). A 67-year-old female patient presented with long-standing dyspnea and palpitation. She was diagnosed with benign adult form of osteopetrosis in her childhood, upon detailed investigations for a pathologic fracture. Physical examination and imaging studies revealed severe AS and two-vessel CAD. Aortic valve replacement and coronary artery bypass grafting were indicated, but open heart surgery by median sternotomy was high risk because of osteopetrosis. We performed staged percutaneous coronary intervention (PCI) and transcatheter aortic valve implantation (TAVI) as minimally invasive treatment. The postoperative course was uneventful and transthoracic echocardiography showed a properly functioning prosthetic valve and no sign of AS. This is the first case report of successful treatment of severe AS and CAD by combined TAVI and PCI in a patient with osteopetrosis. <Learning objective: Transcatheter aortic valve implantation (TAVI) has become available for the treatment of aortic stenosis (AS). In osteopetrosis patients, protraction of bone healing is expected after open heart surgery. Despite standard risk scoring showing AS to be low risk, osteopetrosis may benefit largely from TAVI.>.