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The preponderance of genetic variations in paediatric pulmonary hypertension

Julien Grynblat1, Mélanie Eyries2, Marine Ambar-Akkaoui3

  • 1M3C-Necker, Hôpital Necker-Enfants malades, AP-HP, Université de Paris Cité, Cardiologie Congénitale et Pédiatrique, 149, rue de Sèvres, 75015 Paris, France; Université Paris-Saclay, School of Medicine, Le Kremlin-Bicêtre, France; INSERM UMR_S1358 "Pulmonary hypertension: pathophysiology and novel therapies", HPPIT, Marie Lannelongue Hospital and Bicêtre Hospital, Le Kremlin-Bicêtre, France; Assistance Publique - Hôpitaux de Paris (AP-HP), Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, FHU André Cournand, ERN-LUNG, Bicêtre Hospital, Le Kremlin-Bicêtre, France.

Respiratory Medicine and Research
|May 11, 2026
PubMed

Insights

Genetic testing is crucial for children with pulmonary arterial hypertension (PAH), revealing a higher prevalence of heritable PAH and genetic disorders than previously thought. Early genetic screening is recommended for accurate diagnosis and management.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Pulmonary Medicine

Background:

  • Pulmonary arterial hypertension (PAH) in children can be heritable or associated with genetic disorders.
  • Understanding the genetic basis of pediatric PAH is essential for diagnosis and treatment.

Purpose of the Study:

  • To determine the prevalence and specific genetic causes of heritable PAH in children.
  • To identify the spectrum of genetic disorders associated with pulmonary hypertension (PH) in pediatric patients.

Main Methods:

  • Retrospective analysis of 133 pediatric PAH cases.
  • Genetic analysis to identify pathogenic variants in known PAH genes and associated genetic disorders.

Main Results:

  • A significant proportion of pediatric PAH cases involved heritable forms or genetic disorders.
  • Commonly affected genes included BMPR2, SOX17, and TBX4.
  • Various genetic disorders, such as RASopathy and mitochondrial diseases, were associated with PH in children.

Conclusions:

  • The prevalence of genetic factors in pediatric PAH is higher than previously recognized.
  • Systematic genetic testing, including next-generation sequencing, is vital for children with idiopathic PAH and PH.
  • Further genomic sequencing may uncover novel genes implicated in pediatric PAH.
Abstract

Keywords:
GeneticsPaediatricsPulmonary arterial hypertension

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