Brittle bones, fragile heart- a rare case report of osteogenesis imperfecta and mitral valve insufficiency with tragic outcome

Abstract

Osteogenesis Imperfecta is a rare disease of the connective tissue resulting in bone and tissue fragility. It is characterized by bone fragility, decreased bone mass, and frequent fractures. The range of phenotypic expression varies greatly, spanning from prenatal fractures resulting in fatal outcomes to milder presentations characterized by few fractures and typical stature. According to the Sillence classification that is based on clinical and radiological characteristics along with mode of inheritance it can be classified into 4 types. In this study, we report a 32 year old female with osteogenesis imperfecta who underwent mitral valve replacement. She was a known case of severe mitral valve incompetence secondary to Osteogenesis Imperfecta. She presented with shortness of breath, NYHA class 3 symptoms, and a history of unsuccessful previous percutaneous mitral valve repair. She underwent open mitral valve replacement with tissue valve owing to her risk of bleeding with anticoagulation. Unfortunately, despite meticulous surgical technique, the patient experienced post-operative complications that ultimately led to her demise.