Key result
A biallelic mutation in the EIF2AK4 gene was identified as the genetic cause of hereditary pulmonary veno-occlusive disease in two male siblings.
Why the study?
PVOD is a rapidly progressive cause of PAH where early diagnosis is essential, and recent studies suggest an autosomal recessive genetic predisposition.
Case Report (n=2)
Highlights the genetic predisposition and autosomal recessive inheritance pattern of pulmonary veno-occlusive disease in siblings.
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.
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Mohite et al. (2022) conducted a case report in Pulmonary veno-occlusive disease (n=2). EIF2AK4 gene mutation was evaluated. A biallelic mutation in the EIF2AK4 gene was identified as the genetic cause of hereditary pulmonary veno-occlusive disease in two male siblings.
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