Related Experiment Video

Updated: Sep 6, 2025

Increasing Pulmonary Artery Pulsatile Flow Improves Hypoxic Pulmonary Hypertension in Piglets
08:08

Increasing Pulmonary Artery Pulsatile Flow Improves Hypoxic Pulmonary Hypertension in Piglets

Published on: May 11, 2015

14.3K

Molecular genetics of pulmonary hypertension in children

Fatima Taha1, Laura Southgate1

  • 1Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.

Current Opinion in Genetics & Development
|June 30, 2022
PubMed

Insights

Recent genetic studies reveal distinct molecular causes for paediatric pulmonary hypertension (PH). Next-generation sequencing identifies key genetic factors and transcription factor dysregulation, improving diagnosis and care for children with PH.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Cardiology
  • Pulmonary Medicine

Background:

  • The molecular basis of pediatric pulmonary hypertension (PH) was previously unclear, with management often based on adult data.
  • The TGF-β/BMP pathway is recognized as crucial in PH progression.
  • Previous genetic studies in children were limited to small cohorts and targeted gene screening.

Purpose of the Study:

  • To review recent advancements in understanding the genetic aetiology of pediatric PH.
  • To highlight key genetic risk factors and differences in childhood-onset PH.
  • To emphasize the importance of molecular diagnosis for improved clinical management.

Main Methods:

  • Review of recent genetic research in pediatric PH.
  • Analysis of next-generation sequencing data.
  • Identification of genetic factors and transcription factor involvement (SOX17, TBX4).

Main Results:

  • Next-generation sequencing reveals a distinct genetic architecture in childhood-onset PH.
  • Pediatric PH cases exhibit a higher genetic burden, partly due to comorbidities like congenital heart disease.
  • Dysregulation of transcription factors SOX17 and TBX4 are identified as significant risk factors.

Conclusions:

  • Molecular diagnosis is crucial for enhancing clinical care in pediatric PH.
  • Understanding the unique genetic landscape of pediatric PH is vital due to poorer prognosis.
  • Recent genetic discoveries offer new avenues for diagnosis and potential therapeutic targets.

More Related Videos

Right Ventricular Systolic Pressure Measurements in Combination with Harvest of Lung and Immune Tissue Samples in Mice10:20

Right Ventricular Systolic Pressure Measurements in Combination with Harvest of Lung and Immune Tissue Samples in Mice

Published on: January 16, 2013

25.4K
Induction and Characterization of Pulmonary Hypertension in Mice using the Hypoxia/SU5416 Model07:10

Induction and Characterization of Pulmonary Hypertension in Mice using the Hypoxia/SU5416 Model

Published on: June 3, 2020

10.0K

Related Concept Videos

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
280
Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers01:26

Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers

Receptor tyrosine kinase inhibitors (TKIs) and calcium channel blockers (CCBs) are two critical categories of drugs employed in the treatment of pulmonary artery hypertension (PAH). PAH is a disease that causes high blood pressure in the pulmonary arteries, resulting in chest pain, fatigue, and shortness of breath.
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...
249
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
45
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme...
223
Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors01:28

Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors

Phosphodiesterase 5 (PDE5) inhibitors are potent enzymes that function to hydrolyze cyclic nucleotides to their corresponding 5' monophosphates. Their unique biochemical properties have been applied in treating Pulmonary Arterial Hypertension (PAH).
Among the PDE5 inhibitors, sildenafil (Revatio) stands out as a competitive and selective inhibitor. It operates by elevating cellular levels of cGMP and augmenting signaling through the cGMP-PKG pathway, promoting vasodilation. Upon oral...
244
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
357