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Genetic cause of pulmonary veno-occlusive disease

Kaustubh Mohite1, Anil Kumar Sapare1

  • 1Department of Pediatrics, Narayana Health City, Bengaluru, Karnataka, India.

Lung India : Official Organ of Indian Chest Society
|March 9, 2022
PubMed

Insights

Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH). This case study highlights a genetic predisposition in siblings diagnosed with PVOD, emphasizing early diagnosis and treatment.

Area of Science:

  • Cardiology and Genetics
  • Pulmonary Hypertension Research

Background:

  • Pulmonary veno-occlusive disease (PVOD) is a rare and severe form of pulmonary arterial hypertension (PAH).
  • PVOD is often idiopathic, necessitating detailed diagnostic criteria and early intervention due to its rapid progression.
  • Recent research suggests a genetic basis for PVOD, with an autosomal recessive inheritance pattern.

Observation:

  • This report details a case study involving siblings diagnosed with PVOD.
  • The siblings' diagnosis points towards a potential genetic predisposition for the disease.

Findings:

  • The case provides evidence supporting the genetic link in PVOD development.
  • Identifying familial PVOD cases is crucial for understanding disease inheritance.

Implications:

  • Early genetic screening may benefit families with a history of PVOD.
  • Understanding the genetic underpinnings of PVOD can lead to targeted therapies.
  • This case underscores the importance of considering genetic factors in PAH diagnoses.

Keywords:
EIF2AK4 gene mutationpulmonary arterial hypertensionpulmonary veno-occlusive disease

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