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Pulmonary arterial hypertension

Reviewed January 2007

What is pulmonary arterial hypertension?

Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, pressure increases in the pulmonary artery and in the heart chamber that pumps blood into the pulmonary artery (the right ventricle).

Signs and symptoms of pulmonary arterial hypertension occur when increased pressure cannot fully overcome the elevated resistance and blood flow to the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse.

How common is pulmonary arterial hypertension?

In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males.

What genes are related to pulmonary arterial hypertension?

Mutations in the BMPR2 gene cause pulmonary arterial hypertension.

The BMPR2 gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. As a result, these arteries narrow in diameter, which increases the resistance to blood flow. Blood pressure in the pulmonary artery and the right ventricle of the heart increases to overcome the increased resistance to blood flow.

Other genes that have not yet been identified may also cause pulmonary arterial hypertension. In people with a BMPR2 mutation, other genes or environmental factors may contribute to the development of this disorder.

How do people inherit pulmonary arterial hypertension?

This condition is inherited in an autosomal dominant pattern, which means each cell has one copy of an altered BMPR2 gene. In many cases, however, people with an altered BMPR2 gene never develop symptoms of pulmonary arterial hypertension.

Inherited cases of this disorder are known as familial pulmonary arterial hypertension. As the altered gene is passed down from one generation to the next, the disorder generally begins earlier in life. This phenomenon is called anticipation.

Most cases of pulmonary arterial hypertension, however, occur in individuals with no known family history of the disorder. These cases are known as idiopathic pulmonary arterial hypertension. Some idiopathic cases are due to mutations in the BMPR2 gene, but in most cases a gene mutation has not yet been identified.

Where can I find information about treatment for pulmonary arterial hypertension?

You may find information on treatment or management of pulmonary arterial hypertension or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about pulmonary arterial hypertension?

You may find the following resources about pulmonary arterial hypertension helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Primary Pulmonary Hypertension (http://www.nlm.nih.gov/medlineplus/ency/article/000112.htm)
    • Health Topic: Pulmonary Hypertension (http://www.nlm.nih.gov/medlineplus/pulmonaryhypertension.html)
  • Additional NIH Resources - National Institutes of Health
    National Heart, Lung, and Blood Institute (http://www.nhlbi.nih.gov/health/dci/Diseases/pah/pah_what.html)
  • Educational resources - Information pages
    • Ask the Geneticist (http://www.askthegen.org/question.php?question_id=779)
    • Centers for Disease Control and Prevention (CDC) (http://www.cdc.gov/dhdsp/library/fs_pulmonary_hypertension.htm)
    • Children's Hospital Boston (http://www.childrenshospital.org/az/Site510/mainpageS510P0.html)
    • Cincinnati Children's Hospital Medical Center (http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/ph.htm)
    • Cleveland Clinic Health Information Center (http://www.clevelandclinic.org/health/health-info/docs/0600/0622.asp?index=6530)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,561/)
    • Mayo Clinic (http://www.mayoclinic.org/pulmonary-hypertension/index.html)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec04/ch054/ch054a.html)
    • New York Online Access to Health (http://www.noah-health.org/en/lung/conditions/pulmonaryhyper.html)
    • Ohio State University Medical Center (http://medicalcenter.osu.edu/patientcare/healthcare_services/lung_diseases/lung/hypertension/Pages/index.aspx)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=422)
    • Vanderbilt University Medical Center (http://www.mc.vanderbilt.edu/vumcdept/pulmonary/fpph.html)
  • Patient support - For patients and families
    • American Heart Association (http://www.americanheart.org/presenter.jhtml?identifier=4752)
    • American Lung Association (http://www.lungusa.org/site/pp.asp?c=dvLUK9O0E&b=35699)
    • National Registry for Familial Primary Pulmonary Hypertension (http://www.mc.vanderbilt.edu/vumcdept/pulmonary/contact.htm)
    • PH Central (http://www.phcentral.org)
    • Pulmonary Hypertension Association (http://www.phassociation.org/Learn/What-is-PH/index.asp)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pph)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2609)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22primary+pulmonary+hypertension%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((Hypertension,+Pulmonary[MAJR])+AND+(primary[TIAB]))+AND+(primary+pulmonary+hypertension[TIAB])+AND+review[pt]+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=360+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178600)

What other names do people use for pulmonary arterial hypertension?

  • Ayerza Syndrome
  • familial primary pulmonary hypertension
  • FPPH
  • Idiopathic pulmonary hypertension
  • PAH
  • PPH
  • PPHT
  • primary pulmonary hypertension
  • sporadic primary pulmonary hypertension

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about pulmonary arterial hypertension?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding pulmonary arterial hypertension?

anticipation ; artery ; autosomal ; autosomal dominant ; cell ; cell division ; diameter ; dyspnea ; edema ; fainting ; familial ; family history ; gene ; hypertension ; idiopathic ; mutation ; pulmonary ; pulmonary artery ; sign ; sporadic ; symptom ; syndrome ; tissue ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006 Feb;27(2):121-32. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16429395)
  • Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA 3rd, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J Am Coll Cardiol. 2004 Jun 16;43(12 Suppl S):33S-39S. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15194176)
  • Runo JR, Loyd JE. Primary pulmonary hypertension. Lancet. 2003 May 3;361(9368):1533-44. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12737878)
  • Zhang S, Fantozzi I, Tigno DD, Yi ES, Platoshyn O, Thistlethwaite PA, Kriett JM, Yung G, Rubin LJ, Yuan JX. Bone morphogenetic proteins induce apoptosis in human pulmonary vascular smooth muscle cells. Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L740-54. Epub 2003 May 09. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12740218)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2007
Published: January 12, 2009