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The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

Meindina G Haarman1, Wilhelmina S Kerstjens-Frederikse2, Theresia R Vissia-Kazemier1

  • 1Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.

The Journal of Pediatrics
|June 6, 2020
PubMed

Insights

Genetic mutations are common in pediatric pulmonary arterial hypertension (PAH), extending beyond known PAH genes. Understanding this genetic landscape can aid in personalized risk-stratified care for children with PAH.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Pulmonary Hypertension

Background:

  • Pulmonary arterial hypertension (PAH) in children has diverse underlying causes, including genetic predispositions.
  • Identifying genetic factors is crucial for understanding disease mechanisms and prognosis in pediatric PAH.

Purpose of the Study:

  • To determine the prevalence of PAH-associated gene mutations and other genetic characteristics in a national cohort of Dutch children with PAH.
  • To investigate genotype-phenotype associations and their impact on outcomes in pediatric PAH.

Main Methods:

  • A cohort of 70 children diagnosed with various forms of PAH was enrolled.
  • Targeted next-generation sequencing was used to analyze PAH-associated genes (e.g., BMPR2, TBX4).
  • Genetic disorders and copy number variations were assessed, with testing for specific conditions based on clinical suspicion.

Main Results:

  • Twenty-seven percent of children had PAH-associated gene mutations (BMPR2, TBX4, ACVRL1, KCNK3, EIF2AK4).
  • Seventeen percent had genetic disorders with established PAH links (e.g., trisomy 21), and 23% had disorders without established links (e.g., Noonan syndrome).
  • Survival rates varied by genetic group, with the most favorable outcomes observed in TBX4 variant carriers.

Conclusions:

  • Pediatric PAH exhibits a high prevalence of genetic disorders, encompassing genes beyond those traditionally associated with PAH.
  • The genetic architecture of pediatric PAH is complex and warrants consideration for risk-stratified care management.
Abstract

Keywords:
geneticsoutcomepediatric pulmonary hypertension

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