Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

703
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...
703
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

591
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...
591
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

506
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...
506
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

1.9K
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
1.9K
Treatment for Pulmonary Arterial Hypertension: Prostacyclin Receptor Agonists01:23

Treatment for Pulmonary Arterial Hypertension: Prostacyclin Receptor Agonists

545
Prostacyclin receptor agonists are a class of therapeutic agents integral to managing pulmonary arterial hypertension (PAH). These drugs operate by mimicking the action of prostaglandin I2, or PGI2, a naturally occurring compound in the body.
These agonists bind to the IPR receptor situated on the plasma membrane of the pulmonary artery smooth muscle cells. This binding triggers a cascade of reactions known as the GS-AC-cAMP-PKA pathway. This pathway results in the relaxation of smooth muscle...
545
Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors01:28

Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors

649
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...
649

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Integrating genetic counseling in endocrine practice: Prevention, reproductive care, and prenatal diagnosis.

Annales d'endocrinologie·2026
Same author

Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.

Endocrine connections·2025
Same author

Evolving paradigms in pulmonary hypertension: Highlights of the 6<sup>th</sup> French Pulmonary Hypertension Network Meeting.

Respiratory medicine and research·2025
Same author

An objective method to detect sighs during cardio-pulmonary exercise testing.

Scientific reports·2025
Same author

Acute hemodynamic response to inhaled treprostinil in pulmonary hypertension associated with interstitial lung disease: a case highlighting unresolved questions.

Respiratory medicine and research·2025
Same author

Pulmonary arterial stiffness as the main correlate of effective arterial elastance in pre- and post-capillary pulmonary hypertension.

Respiratory medicine and research·2025

Related Experiment Video

Updated: Feb 23, 2026

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

14.7K

Heritable pulmonary hypertension: from bench to bedside.

Barbara Girerd1,2,3, Jason Weatherald1,2,3,4, David Montani1,2,3

  • 1Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

European Respiratory Review : an Official Journal of the European Respiratory Society
|September 8, 2017
PubMed
Summary

Genetic testing identifies mutations linked to heritable pulmonary hypertension. Early detection programs and genetic counseling are offered to at-risk individuals and families.

More Related Videos

Establishment and Validation of a Rat Model of Pulmonary Arterial Hypertension Associated with Pulmonary Fibrosis
07:11

Establishment and Validation of a Rat Model of Pulmonary Arterial Hypertension Associated with Pulmonary Fibrosis

Published on: May 23, 2025

981
Right Ventricular Systolic Pressure Measurements in Combination with Harvest of Lung and Immune Tissue Samples in Mice
10:20

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

Published on: January 16, 2013

26.1K

Related Experiment Videos

Last Updated: Feb 23, 2026

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

14.7K
Establishment and Validation of a Rat Model of Pulmonary Arterial Hypertension Associated with Pulmonary Fibrosis
07:11

Establishment and Validation of a Rat Model of Pulmonary Arterial Hypertension Associated with Pulmonary Fibrosis

Published on: May 23, 2025

981
Right Ventricular Systolic Pressure Measurements in Combination with Harvest of Lung and Immune Tissue Samples in Mice
10:20

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

Published on: January 16, 2013

26.1K

Area of Science:

  • Genetics
  • Cardiology
  • Respiratory Medicine

Background:

  • Heritable pulmonary arterial hypertension (PAH) is often caused by mutations in genes like BMPR2.
  • Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis is linked to EIF2AK4 gene mutations.
  • These genetic conditions exhibit varied inheritance patterns and penetrance.

Purpose of the Study:

  • To outline genetic counseling and testing services for heritable pulmonary hypertension in France.
  • To describe the early detection program for asymptomatic BMPR2 mutation carriers.
  • To present the use of pre-implantation genetic diagnosis in affected families.

Main Methods:

  • Genetic counseling and testing for adults and children with suspected heritable pulmonary hypertension.
  • Predictive genetic testing for at-risk adult relatives.
  • Proactive screening for pulmonary arterial hypertension in asymptomatic BMPR2 mutation carriers.
  • Pre-implantation genetic diagnosis for couples carrying pathogenic BMPR2 mutations.

Main Results:

  • The national referral center provides comprehensive genetic services.
  • Asymptomatic BMPR2 mutation carriers are enrolled in early detection programs.
  • Pre-implantation genetic diagnosis has been successfully applied in specific cases.

Conclusions:

  • Genetic testing is crucial for diagnosing and managing heritable pulmonary hypertension.
  • Early detection and intervention strategies improve patient outcomes.
  • Genetic services, including counseling and reproductive options, support affected families.