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Related Concept Videos

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

169
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...
169
Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors01:28

Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors

146
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...
146
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

157
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...
157
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

155
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...
155
Treatment for Pulmonary Arterial Hypertension: Prostacyclin Receptor Agonists01:23

Treatment for Pulmonary Arterial Hypertension: Prostacyclin Receptor Agonists

167
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...
167
Treatment for Pulmonary Arterial Hypertension: Oxygen Therapy for Respiratory Failure01:16

Treatment for Pulmonary Arterial Hypertension: Oxygen Therapy for Respiratory Failure

198
Oxygen therapy has emerged as a significant tool in enhancing the quality of life for patients suffering from pulmonary arterial hypertension (PAH). While this therapy has principally been studied on patients with significant hypoxemia, this therapeutic approach helps prevent potential organ damage and can be administered in the comfort of one's home.
Oxygen therapy is vital in increasing and maintaining blood oxygen levels in PAH patients. As a result, it aids in reducing fatigue,...
198

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Updated: Jun 25, 2025

Increasing Pulmonary Artery Pulsatile Flow Improves Hypoxic Pulmonary Hypertension in Piglets
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[Heritable pulmonary arterial hypertension].

Christina A Eichstaedt1,2, Memoona Shaukat3,4, Ekkehard Grünig3

  • 1Zentrum für Pulmonale Hypertonie, Thoraxklinik am Universitätsklinikum Heidelberg, Röntgenstraße 1, 69126, Heidelberg, Deutschland. christina.eichstaedt@med.uni-heidelberg.de.

Innere Medizin (Heidelberg, Germany)
|May 21, 2024
PubMed
Summary
This summary is machine-generated.

Genetic testing identifies over 18 genes causing heritable pulmonary arterial hypertension (PAH), with BMPR2 being the most common. This aids diagnosis and family screening, with new treatments targeting the BMPR2 pathway emerging.

Keywords:
Bone morphogenetic protein receptor 2 (BMPR2)Genetic testingPulmonary hypertensionPulmonary veno-occlusive diseaseReduced penetranceSotatercept

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Area of Science:

  • Genetics
  • Cardiology
  • Pulmonology

Background:

  • Heritable pulmonary arterial hypertension (PAH) is a severe condition linked to genetic mutations.
  • Over 18 genes are implicated, with bone morphogenetic protein receptor 2 (BMPR2) being the most frequently altered.
  • Mutations in related genes within the same signaling pathway also contribute to PAH development.

Purpose of the Study:

  • To review the genetic basis of heritable PAH.
  • To highlight the role of genetic testing in diagnosing PAH and related conditions.
  • To discuss the implications of genetic findings for family members and emerging therapeutic strategies.

Main Methods:

  • Literature review of genetic factors in PAH.
  • Analysis of genetic testing utility for differential diagnosis.
  • Overview of inheritance patterns and novel treatment approaches.

Main Results:

  • Identified at least 18 genes associated with heritable PAH, with BMPR2 mutations being most prevalent.
  • Confirmed the utility of genetic testing for diagnosing PAH and differentiating it from pulmonary veno-occlusive disease.
  • Highlighted the potential for genetic testing to facilitate cascade screening in at-risk families.

Conclusions:

  • Genetic testing is crucial for diagnosing heritable PAH and guiding family screening.
  • Understanding the genetic underpinnings, particularly BMPR2 pathway alterations, is key to developing targeted therapies.
  • Emerging treatments aim to rebalance the BMPR2 signaling pathway, offering new hope for PAH patients.