Pulmonary Hypertension in a 19-Year-Old Patient Due to a Mutation in the Bone Morphogenetic Protein Receptor Gene: A...

Pulmonary hypertension (PH) is a chronic disease with a high socio-economic and health burden, often misdiagnosed or diagnosed late due to the absence of specific symptoms, with often fatal outcomes. Despite numerous studies on the disorder, the exact mechanisms of onset are not yet fully understood, and the therapeutic possibilities, although increasing, are still few and not curative. We report the case of an apparently healthy 19-year-old woman who presented with recurrent syncope, dyspnea, and chest pain on exertion. Diagnostic work-up showed severe PH, and genetic analysis revealed a truncating mutation in the bone morphogenetic protein receptor gene 2 as an etiologic factor. Similar mutations in the same gene, inherited in an autosomal-dominant pattern, are already known as the causative factor of PH. Despite the implementation of guideline-directed medical therapy, the clinical situation rapidly deteriorated, and the patient died due to a pulmonary hemorrhage. This case report highlights the importance of early diagnosis, especially at a young age, and the need for treatment by a center specialized in these disorders.