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Pulmonary Hypertension Genes

  • Chapter
Pulmonary Hypertension

Part of the book series: Contemporary Cardiology™ ((CONCARD))

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Abstract

Most of what is known about the genetic basis of pulmonary hypertension (PH) is related to mutations in bone morphogenetic protein receptor 2 (BMPR2), which have been identified in patients with pulmonary arterial hypertension (PAH). However, a number of functional polymorphisms in other genes may be associated with the development of PH or may modify disease expression. In particular, polymorphisms in genes encoding serotonin receptors, the serotonin transporter, and nitric oxide synthase may influence the development of PH in the presence or absence of mutations in BMPR2. As knowledge of the genetic basis of PH grows, how to best conduct screening, genetic testing, and genetic counseling will become increasingly important. In the future, identification of specific genotypes associated with response to different therapies (i.e., epoprostenol) or with patterns of disease severity may help tailor therapy and improve the outcome of patients.

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Authors
  1. Elisabeth Donlevy Willers
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  2. Ivan M. Robbins
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Editors and Affiliations

  1. Division of Pulmonary, Critical Care and Sleep Medicine Tufts Medical Center, Boston, MA

    Nicholas S. Hill MD

  2. Pulmonary Center, Boston University, Boston, MA

    Harrison W. Farber MD

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© 2008 Humana Press, Totowa, NJ

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Willers, E.D., Robbins, I.M. (2008). Pulmonary Hypertension Genes. In: Hill, N.S., Farber, H.W. (eds) Pulmonary Hypertension. Contemporary Cardiology™. Humana Press. https://doi.org/10.1007/978-1-60327-075-5_5

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  • DOI: https://doi.org/10.1007/978-1-60327-075-5_5

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-661-0

  • Online ISBN: 978-1-60327-075-5

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