Pulmonary arterial hypertension (PAH) is a rare, progressive condition characterized by high blood pressure in the arteries of the lungs. It is a primary type of pulmonary hypertension, meaning that it is not caused by another underlying condition.

Scientific research has identified multiple genes associated with the development of PAH. The most commonly altered gene is called bmpr2, which is the cause of PAH in approximately 70% of cases. Other genes, such as acvrl1 and endog, have also been identified. These genetic alterations can lead to the narrowing and thickening of the pulmonary arteries, resulting in increased pressure and reduced blood flow to the lungs.

There is currently no cure for PAH, but there are treatments available to support patients and manage their symptoms. These include medications to dilate the blood vessels, improve blood flow, and reduce the workload on the heart. In severe cases, lung transplantation may be considered as a treatment option.

Patients and their families can find support and resources through advocacy organizations, such as the Pulmonary Hypertension Association, which provides information, educational materials, and links to clinical trials and research articles. Additionally, there are online databases, such as OMIM and PubMed, where individuals can find additional references and learn more about the genetics and causes of this rare condition.

Frequency

Pulmonary arterial hypertension (PAH) is a rare disease, with a frequency of about 15-50 cases per million individuals worldwide. The exact prevalence of PAH varies across different populations, but it is estimated that there are approximately 100,000 individuals with PAH in the United States.

Advocacy groups and research centers focusing on PAH, such as the Pulmonary Hypertension Association and the Pulmonary Hypertension Program at the University of California, San Diego, provide valuable resources and support for patients and their families.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Several genetic mutations have been identified in patients with PAH, with the most common mutation being in the BMPR2 gene. Mutations in other genes, such as ACVRL1, ENG, SMAD9, and CAV1, have also been associated with the development of PAH.

Scientific studies and clinical trials are ongoing to better understand the causes of PAH and to develop new drugs and treatment options for affected individuals. The National Institutes of Health (NIH) and other research institutions provide resources, funding, and support for these studies.

Information on clinical trials and genetic testing for PAH can be found on websites such as ClinicalTrials.gov, PubMed, OMIM, and more. These resources provide access to articles, studies, and other references related to the genetics and frequency of PAH.

PAH is a primary pulmonary arterial hypertension, meaning that it is not caused by another underlying condition. However, it can be associated with other rare diseases, such as pulmonary veno-occlusive disease (PVOD), hereditary hemorrhagic telangiectasia (HHT), and others.

Throughout the patient advocacy and research community, there is ongoing interest in understanding the genetic basis of PAH and its inheritance patterns. Studies conducted by researchers like Dr. Marc Humbert at the French National Reference Center for Pulmonary Hypertension have contributed valuable insights into the genetics of PAH and potential treatments.

In summary, the frequency of PAH is relatively low, with approximately 15-50 cases per million individuals worldwide. Genetic mutations, particularly in the BMPR2 gene, have been identified as a major cause of PAH. Resources and support from advocacy groups, research centers, and scientific studies are available to help patients with PAH and their families navigate this rare condition.

Causes

The causes of pulmonary arterial hypertension (PAH) can be both primary and secondary.

Primary PAH is a genetic condition that is often inherited from a parent. Studies support the evidence that mutations in the BMPR2 gene are the most common genetic cause of primary PAH. Other genes have also been identified through scientific research, such as ALK1, ENG, and SMAD9.

Secondary PAH is associated with other diseases or conditions, such as connective tissue diseases, congenital heart diseases, liver diseases, and pulmonary vein occlusion. These conditions can lead to the narrowing of the pulmonary arteries and thus increase the pressure in the pulmonary circulation.

Research on the genetic basis of PAH is ongoing, and more genes associated with the condition have been identified. Genetic testing can provide valuable information for patients and their healthcare providers in diagnosing and developing personalized treatment plans.

Additional resources for information about the genetics of PAH can be found in databases such as Online Mendelian Inheritance in Man (OMIM), PubMed, and the National Center for Advancing Translational Sciences.

Clinical trials (available on clinicaltrialsgov) also provide opportunities for patients with PAH and their healthcare providers to learn more about the causes and potential new treatments for this condition.

Learn more about the genes associated with Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare condition characterized by narrow and stiff arteries in the lungs. It is a primary form of pulmonary hypertension, meaning it is not caused by other underlying conditions. Recent research has identified several genes associated with PAH, providing valuable insights into the genetics of the disease.

One of the most well-known genes associated with PAH is BMPR2. Mutations in the BMPR2 gene have been found in a significant percentage of patients with PAH. BMPR2 mutations are inherited in an autosomal dominant manner, meaning that an altered copy of the gene from one parent is enough to cause the condition. Testing for BMPR2 mutations can be done to confirm a diagnosis of PAH or to identify individuals at risk of developing the disease.

In addition to BMPR2, other genes have also been identified as being associated with PAH. These include ALK1, ENG, and SMAD9, among others. The frequency of mutations in these genes varies among different populations and patient groups. Genetic testing can provide more information about the specific genetic alterations present in an individual and can help guide treatment decisions.

Learning more about the genetics of PAH can have important implications for patients. It can help researchers and clinicians develop new treatments and interventions targeted specifically towards the underlying genetic causes of the disease. Genetic research can also lead to a better understanding of the mechanisms involved in the development of PAH, potentially opening up new avenues for therapy.

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For patients and their families, understanding the genetic basis of PAH can offer a sense of empowerment and control. It can help individuals make more informed decisions about their healthcare and access appropriate resources and support. Genetic counseling and patient advocacy organizations can provide additional information and assistance in navigating the complexities of living with a rare genetic condition.

There are several resources available for individuals interested in learning more about the genes associated with PAH. Scientific articles published in journals and references, including those found on PubMed and OMIM, provide in-depth information on the latest research findings. ClinicalTrials.gov is a valuable resource for finding ongoing clinical studies and trials related to PAH and its genetic causes.

Support and advocacy organizations play a crucial role in connecting patients and families affected by PAH with resources and support. These organizations often provide educational materials, patient networks, and opportunities for participation in research or clinical trials. The Pulmonary Hypertension Association and the Machado-Joseph Disease Foundation are examples of such organizations.

In conclusion, understanding the genes associated with Pulmonary arterial hypertension is essential in advancing research, diagnosis, and treatment of this rare condition. By staying informed about the latest scientific discoveries and accessing resources and support, individuals affected by PAH can better manage the condition and contribute to ongoing efforts aimed at improving the lives of patients.

Inheritance

Pulmonary arterial hypertension (PAH) is a rare condition that can be inherited in some cases. Studies have identified several genes that are associated with the development of PAH, including BMPR2, ALK1, ENG, and SMAD9. Mutations in these genes can lead to altered function of the proteins they encode, causing narrowing and thickening of the pulmonary arteries.

BMPR2 is the most commonly altered gene in hereditary PAH, with mutations found in about 70% of patients with a family history of the condition. Mutations in other genes, such as ALK1 and ENG, are less common and are usually associated with other rare diseases.

Genetic testing can be used to identify mutations in these genes and provide more information about the inheritance of PAH. Additional studies are ongoing to learn more about the frequency and inheritance patterns of these genetic alterations.

Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov can provide more information about the genes associated with PAH and ongoing research and clinical trials related to the condition.

Patients with a family history of PAH may benefit from genetic counseling and testing to learn about their risk of developing the condition and to guide treatment decisions.

In summary, genetics play a significant role in the development of pulmonary arterial hypertension, with several genes identified as being associated with the condition. Genetic testing and research are ongoing to learn more about the inheritance patterns and mechanisms underlying the disease.

Other Names for This Condition

In addition to “pulmonary arterial hypertension,” this condition is also known by other names:

  • Primary pulmonary hypertension
  • Pulmonary hypertension, primary
  • Pulmonary hypertension, familial primary
  • pulmonary arterial hypertension
  • Pulmonary artery hypertension

These names are used interchangeably to refer to the same condition.

Studies have identified several genes associated with pulmonary arterial hypertension. Mutations in the BMPR2 gene are the most common cause of familial pulmonary arterial hypertension. Other genes, such as SMAD9, ENG, and ACVRL1, have also been identified as being associated with this condition.

Genetic testing can be done to check for mutations in these genes. Testing is typically recommended for patients with a family history of the disease or who develop pulmonary arterial hypertension at a young age.

Additional research is still needed to fully understand the genetics and inheritance patterns of this condition. The exact mechanisms by which these genetic alterations lead to the development of pulmonary arterial hypertension are not yet fully understood.

There are resources available to learn more about the genetics and causes of pulmonary arterial hypertension. The Online Mendelian Inheritance in Man (OMIM), PubMed, and the genetic testing catalog are scientific resources that provide more information on the genes and genetic mutations associated with this condition.

For more information on ongoing clinical trials and available drugs, the website clinicaltrialsgov can be consulted. This resource provides information on the latest research and potential treatment options for patients with pulmonary arterial hypertension.

In addition to genetic factors, there are other diseases and conditions that can contribute to the development of pulmonary arterial hypertension. These include connective tissue diseases, liver disease, HIV infection, and certain congenital heart defects. These underlying conditions can narrow the pulmonary arteries and increase the frequency of pulmonary arterial hypertension.

References:

  1. Humbert M, Morrell NW, Archer SL, et al. Cellular and molecular pathobiology of pulmonary arterial hypertension. J Am Coll Cardiol. 2004;43(12 Suppl S):13S-24S. doi:10.1016/j.jacc.2004.02.029
  2. Galiè N, Hoeper MM, Humbert M, et al. Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J. 2009;30(20):2493-2537. doi:10.1093/eurheartj/ehp297

Additional Information Resources

Here are some additional resources to learn more about pulmonary arterial hypertension (PAH):

  1. OMIM (Online Mendelian Inheritance in Man): OMIM is an online catalog of human genes and genetic disorders. It provides information on the genetics of PAH and associated genes. You can find more about PAH by searching for related genes and mutations on OMIM.

  2. PubMed: This is a trusted database of scientific articles and studies. You can search for primary research articles on PAH, its causes, genetics, and treatment options on PubMed. It is a great resource to stay updated with the latest advancements in the field.

  3. ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials worldwide. By searching for PAH-related studies on this website, you can find ongoing and completed clinical trials related to PAH. It provides valuable information on new drugs and treatment options being tested.

  4. Pulmonary Hypertension Association: This is an advocacy and support center for patients with PAH and other types of pulmonary hypertension. They provide resources, support groups, educational materials, and information on clinical trials and treatment options. It is a great resource for patient support and education.

These resources can help you learn more about the causes, genetics, and treatment options for PAH. They provide scientific and genetic information on this rare condition.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing pulmonary arterial hypertension (PAH) and understanding its genetic causes. By analyzing an individual’s DNA, genetic testing can identify mutations in specific genes that are associated with the development of this rare and often inherited condition.

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One of the most commonly identified genes in PAH is the bone morphogenetic protein receptor type 2 (BMPR2) gene. Mutations in this gene account for approximately 70-80% of all cases of familial PAH and about 20% of cases of idiopathic PAH. Mutations in other genes, such as SMAD9, ACVRL1, CAV1, and KCNK3, have also been associated with PAH, although these are less common.

Genetic testing for PAH can provide valuable information to patients and their healthcare providers. It can help determine the exact genetic cause of their condition, provide insights into disease progression and prognosis, and inform decisions about treatment options. Additionally, genetic testing can identify individuals who may be at risk for developing PAH in the future, allowing for proactive monitoring and early intervention.

There are several resources available for individuals seeking more information about genetic testing for PAH. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides up-to-date information about PAH and other rare diseases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes, genetic disorders, and their associated mutations. PubMed is a valuable resource for accessing scientific articles and research studies related to genetic testing and PAH.

In addition to these resources, there are advocacy groups and support organizations that offer information, resources, and support to individuals and families affected by PAH. These organizations can provide guidance on finding genetic testing facilities, clinical trials for new drugs, and other resources to support patients and their loved ones.

References
1. Humbert, M. (2010). Pulmonary arterial hypertension: from pathogenesis to clinical management. Springer Science & Business Media.
2. Machado, R. D., et al. (2001). Genetic association of the BMPR2 gene region with pulmonary arterial hypertension in an international population. Journal of medical genetics, 38(7), 437-440.
3. Rabinovitch, M., et al. (2014). Diagnosis and management of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest, 146(3 suppl), e44S-e55S.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients and healthcare providers seeking information on pulmonary arterial hypertension and other genetic and rare diseases. The center provides a comprehensive catalog of information about different genetic conditions, including inheritance patterns, genes associated with the condition, and genetic testing resources.

Pulmonary arterial hypertension (PAH) is a rare condition characterized by high blood pressure in the arteries of the lungs. It is often caused by altered genes, with the most common genetic cause being mutations in the BMPR2 gene. Genetic studies have identified other genes associated with PAH, such as the ACVRL1 and ENG genes. These genes play a role in the development and function of the pulmonary arteries.

The Genetic and Rare Diseases Information Center offers resources for patients and healthcare providers to learn more about the genetic causes of pulmonary arterial hypertension. On the center’s website, you can find scientific articles and references from PubMed and OMIM, which provide up-to-date information on the genetics of this condition. The center also provides information on genetic testing options and ongoing research studies.

For patients with pulmonary arterial hypertension and their families, the center offers advocacy and support resources. You can find additional information on rare disease organizations, clinical trials, and available drugs for treating PAH. The center also provides resources for healthcare providers, including clinical guidelines and research articles.

It is important for patients with pulmonary arterial hypertension to understand the genetic aspects of their condition. By learning more about the genes associated with PAH, patients can better understand their risk factors and potential treatment options. The Genetic and Rare Diseases Information Center is a valuable resource for this information, providing comprehensive and up-to-date resources for patients, healthcare providers, and researchers.

Patient Support and Advocacy Resources

Patients with pulmonary arterial hypertension (PAH) may benefit from accessing various support and advocacy resources to better understand their condition, access treatment options, and connect with others who share the same experiences. The following resources can provide valuable information and support:

  • Pulmonary Hypertension Association (PHA): The PHA is a patient advocacy organization that provides education, support, and advocacy for individuals living with PAH and their families. Their website offers a wealth of information on PAH, including resources for finding specialized care, support groups, and educational materials.
  • Genetic Testing Resources: Some cases of PAH are caused by genetic mutations, particularly in the BMPR2 gene. For patients with a family history of PAH or those who develop the condition at a young age, genetic testing may be recommended. The National Human Genome Research Institute’s Genetic Testing Registry (GTR) provides a directory of genetic testing labs, including those that offer PAH-related testing.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. Patients with PAH may find information about ongoing clinical trials investigating new treatments, interventions, and diagnostic approaches. Participation in clinical trials can provide access to experimental treatments and contribute to the advancement of scientific knowledge about PAH.
  • PubMed: PubMed is a comprehensive database of scientific articles and studies. It can be a valuable resource for patients interested in learning more about the latest research and advancements in the field of PAH. Searching for keywords such as “pulmonary arterial hypertension,” “PAH genetics,” or specific gene names associated with PAH (e.g., BMPR2 or ACVRL1) can yield a wealth of relevant information.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the genetics, inheritance patterns, and clinical features of various diseases, including PAH. Patients and their families can use OMIM to learn more about the genes associated with PAH and the inheritance patterns of the condition.

These resources offer a range of support options for patients with PAH and can help them access valuable information, connect with others who share their experiences, and stay updated on the latest advancements in research and treatment. It is important for patients to take advantage of these resources and advocate for their own health and well-being.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the ongoing and completed studies related to pulmonary arterial hypertension (PAH). These studies aim to explore the causes, genetic factors, and treatment options for this rare condition.

PAH is a condition in which the arteries that carry blood from the heart to the lungs become narrow, leading to high blood pressure in the lungs. It can be idiopathic (primary) or associated with other diseases, such as connective tissue diseases.

Genetic studies have identified several genes associated with the inheritance of PAH. One of the most commonly altered genes in PAH is BMPR2. Mutations in the BMPR2 gene have been identified in more than 70% of patients with heritable PAH. Other genes, such as ACVRL1, ENG, and SMAD9, have also been associated with the development of PAH.

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Research studies listed on ClinicalTrialsgov provide information about ongoing clinical trials and research projects that aim to learn more about the genetic causes of PAH and develop new drugs for its treatment. These studies also support patient advocacy and provide resources for rare diseases like PAH.

ClinicalTrialsgov is a comprehensive clinical trial registry that catalogues references to ongoing and completed clinical trials. The information provided includes the study names, scientific centers conducting the studies, frequency and genetic testing resources, as well as additional information about the genes associated with the development of PAH.

Published articles on PAH can also be found on PubMed, a database of scientific articles. These articles provide additional insights into the genetics, causes, diagnosis, and treatment of PAH.

Overall, research studies from ClinicalTrialsgov and articles from PubMed offer valuable information and resources for patients, healthcare professionals, and researchers interested in understanding and managing pulmonary arterial hypertension.

  • References:
  • ClinicalTrials.gov
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive collection of genes and genetic disorders. It provides a valuable resource for researchers and clinicians interested in pulmonary arterial hypertension (PAH) and related conditions.

The catalog includes information about genes that have been identified as causing or being associated with PAH or other similar diseases. These genes play a crucial role in the development and function of the pulmonary arteries.

With over 200 articles and resources available, OMIM offers a wealth of information about the genetic basis of PAH. It provides details about gene names, inheritance patterns, mutational frequencies, and additional resources for further research and genetic testing.

One example of a gene associated with PAH is the BMPR2 gene, which has been identified in many PAH patients. Mutations in this gene can lead to the development of the condition. Researchers have conducted scientific studies to better understand the role of this gene in PAH, and references to these studies can be found in the OMIM catalog.

In addition to information about genes, OMIM also provides resources for patient support and advocacy. It offers links to patient organizations and clinical trials related to PAH. This can be helpful for individuals and families affected by the condition, as it provides access to more information and potential treatment options.

The OMIM catalog is a valuable tool for both clinicians and researchers interested in the genetics of PAH. It enables them to stay informed about the latest research findings and clinical trials in the field. By learning more about the genetic causes of the condition, scientists and medical professionals can develop targeted therapies and interventions for PAH patients.

References:

  • OMIM: Pulmonary Arterial Hypertension (PAH) – Genetics Home Reference – NIH
  • Humbert, M., & Soubrier, F. (2017). Genetics of pulmonary arterial hypertension: from bench to bedside. European Respiratory Journal, 50(5), 1701210.
  • Machado, R. D., & Trembath, R. C. (2014). Genetics of pulmonary arterial hypertension. The Journal of clinical investigation, 124(6), 2721–2724.

For more information and resources, please visit the OMIM website or consult the PubMed database for scientific articles and studies related to pulmonary arterial hypertension.

For information about ongoing clinical trials, visit clinicaltrialsgov.

Scientific Articles on PubMed

Pulmonary arterial hypertension (PAH) is a rare condition that causes narrowing of the arteries throughout the lungs. It is primarily associated with mutations in the BMPR2 gene, although other genes have also been identified. This genetic alteration leads to increased pressure in the pulmonary arteries, leading to symptoms such as shortness of breath, fatigue, and chest pain.

Scientific research on PAH can be found on PubMed, a comprehensive database of scientific articles. PubMed contains a wealth of information on the genetics, inheritance patterns, and clinical trials associated with this condition.

One study by Humbert et al. [1] explored the genetic basis of PAH and found that mutations in the BMPR2 gene were present in the majority of patients with familial PAH. Another study by Machado et al. [2] identified additional genes that may be associated with the development of PAH. These studies provide valuable insights into the genetics of the condition and offer potential targets for future treatments.

In addition to scientific articles, clinicaltrialsgov is a useful resource for finding ongoing clinical trials related to PAH. These trials test new drugs and treatment approaches in patients with the condition, providing valuable information for healthcare professionals and patients alike.

For more information about PAH and its genetic causes, resources such as OMIM and the Pulmonary Hypertension Association can be helpful. These organizations provide patient-centered resources, advocacy, and support for individuals affected by PAH.

Overall, scientific articles on PubMed offer a wealth of information on the genetics, inheritance patterns, and clinical trials associated with PAH. Researchers and healthcare professionals can utilize these resources to learn more about this rare condition and develop new strategies for diagnosis and treatment.

References:

  1. Humbert M, et al. Genetics of pulmonary arterial hypertension: from bench to bedside. Eur Respir J. 2019;53(6):1801895.
  2. Machado RD, et al. Genetic basis of pulmonary arterial hypertension. Eur Respir J. 2019;53(1):1801891.

References

  • Humbert, M., Sitbon, O., Chaouat, A., Bertocchi, M., Habib, G., Gressin, V., . . . Simonneau, G. (2006). Pulmonary arterial hypertension in France: Results from a national registry. American Journal of Respiratory and Critical Care Medicine, 173(9), 1023-1030.
  • Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. B., Morgan, N. V., Wheeler, L., . . . Trembath, R. C. (2001). BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. American Journal of Human Genetics, 68(1), 92-102.
  • Machado, R. D., Southgate, L., Eichstaedt, C. A., Aldred, M. A., Austin, E. D., Best, D. H., . . . Morrell, N. W. (2015). Pulmonary arterial hypertension: A current perspective on established and emerging molecular genetic defects. Human Mutation, 36(12), 1113-1127.
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Pulmonary hypertension, primary, 1; PPH1 – 178600. Retrieved from https://www.omim.org/entry/178600
  • PubMed Central. (n.d.). Pulmonary arterial hypertension – Genetic Alliance. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed?term=Pulmonary arterial hypertension
  • Resources – Center for Pulmonary Arterial Hypertension (CPAH). (n.d.). Retrieved from http://www.centerforpah.org/resources/
  • Scientific names of genes – Center for Pulmonary Arterial Hypertension (CPAH). (n.d.). Retrieved from http://www.centerforpah.org/scientific-names-of-genes/
  • Support – Center for Pulmonary Arterial Hypertension (CPAH). (n.d.). Retrieved from http://www.centerforpah.org/support/
  • Testing – Center for Pulmonary Arterial Hypertension (CPAH). (n.d.). Retrieved from http://www.centerforpah.org/testing/
  • Additional Pulmonary Arterial Hypertension Articles. (n.d.). Retrieved from https://www.pulmonaryhypertensionnews.com/category/news-posts/
  • Pulmonary Arterial Hypertension – Advocacy and Support. (n.d.). Retrieved from https://www.phassociation.org/patients
  • Pulmonary Hypertension Clinical Trials.gov. (n.d.). Retrieved from https://clinicaltrialsgov/genetic.causes.of.pulmonary.hypertension/
  • Rare Diseases Patient Resources. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/2119/pulmonary-arterial-hypertension