Stanford Type B Aortic Dissection in a Patient With Osteogenesis Imperfecta: A Case Report.

Abstract

Osteogenesis imperfecta is a group of rare, genetically inherited, autosomal dominant connective tissue disorders affecting the production of type-1 collagen. The most common cardiovascular manifestations of the pathology include aortic regurgitation and aortic root disease. Other manifestations remain particularly rare, with only 2 previously reported cases of type B aortic dissection in patients with osteogenesis imperfecta described in the literature. The management of vascular pathology in connective tissue disease remains a significant clinical challenge due to the intrinsic fragility of connective tissues and tendencies to bleed with open surgical repair. This is a case of a 69-year-old with a genetically confirmed diagnosis of osteogenesis imperfecta presenting with epigastric pain radiating to the back. She had vascular risk factors of hypertension and hypercholesterolaemia. Imaging revealed an acute, uncomplicated Stanford Type B aortic dissection, which was managed with intravenous and then oral beta-blocker therapy. Close imaging surveillance demonstrated stability in the extent of the dissection, and she remains asymptomatic at 6 months of follow-up. Notably, her inpatient stay was complicated by a reactive pleural effusion, which resolved without intervention. Given the rarity of aortic dissection in patients with osteogenesis imperfecta and the lack of clinical evidence to guide decision-making, this case report emphasizes the importance of an individualized approach to management in the acute phase with intensive outpatient surveillance. Awareness of the risks posed by connective tissue fragility in this patient population is essential in guiding both emergency and elective surgical management and long-term care planning.