Abstract
Pulmonary arterial hypertension (PAH) is a rare, severe disease with various genetic and acquired causes. More than 10 genes mutations that can cause PAH have been identified over the past 20 years. We report a 23-year-old patient with progressive exertional dyspnoea for several years and found on echocardiography to have a high probability of pulmonary hypertension (PH). After excluding congenital heart disease, right heart catheterisation confirmed severe precapillary PH. Due to the early onset, genetic testing was recommended and it revealed a TBX4 gene mutation, a rare cause of PAH. Subsequent screening of the patient’s mother detected asymptomatic PH, confirmed by right heart catheterisation. The genetic testing confirmed the mutation and aetiology of PH, thus indicating genetic anticipation. This case highlights the rarity of hereditary PH in general, TBX4 mutation in particular, and the challenges Romanian patients face in accessing genetic testing. Additionally it emphasises the importance of family screening, leading to the early detection of PAH before symptoms arise.