Genetic cause of pulmonary veno-occlusive disease

Abstract

Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly progressive disease, early diagnosis is of utmost importance which helps to initiate appropriate treatment. Recent studies suggest that PVOD has a genetic predisposition and has an autosomal recessive pattern of inheritance. Here, we discuss the case of siblings diagnosed with PVOD to have such genetic predisposition for this disease.

Keywords

• eif2ak4 gene mutation
• pulmonary arterial hypertension
• pulmonary veno-occlusive disease