Genetic diagnostics in patients with chronic thromboembolic pulmonary hypertension

While 85% of heritable pulmonary arterial hypertension patients carry mutations within the bone morphogenetic protein receptor 2 (BMPR2) gene or associated pathway genes, possible underlying genetic predisposition to chronic thromboembolic pulmonary hypertension (CTEPH) is largely unexplored. Only few case reports of CTEPH patients with mutations exist. Hence, genetic diagnostics is not recommended by current guidelines for this patient...