Genetics of severe pulmonary hypertension [chapter 12]

Machado, Rajiv D. and Trembath, Richard C. and Morrell, Nicholas W. (2011) Genetics of severe pulmonary hypertension [chapter 12]. In: Pulmonary hypertension: the present and future. People’s Medical Publishing House (PMPH), USA, pp. 197-210. ISBN 1607950375, 9781607950370

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Abstract

The identification of the genetic basis of heritable pulmonary arterial hypertension (HPAH) was a landmark discovery in the field. Ten years later, investigators are making significant progress toward understanding how such mutations confer susceptibility to disease and using this information to devise new approaches to treatment. Still, much remains to be learned regarding the genetic architecture of severe pulmonary arterial hypertension (PAH) and the genetic contribution to disease susceptibility. Evidence of familial clustering in PAH was first reported by Dresdale in 1954. Familial PAH, observed in approximately 10% of all ascertained cases, has recently been redefined as HPAH to acknowledge the fact that a causal and transmissible genetic defect may underlie disease in as many as a third of all cases. PAH may also be idiopathic (IPAH), or observed in association with exposure to risk factors such as appetite suppressant drugs and a limited series of disorders, including connective tissue disease, congenital heart disease, human immunodeficiency virus infection, and thromboembolic disease.

Item Type:Book Section
Additional Information:The identification of the genetic basis of heritable pulmonary arterial hypertension (HPAH) was a landmark discovery in the field. Ten years later, investigators are making significant progress toward understanding how such mutations confer susceptibility to disease and using this information to devise new approaches to treatment. Still, much remains to be learned regarding the genetic architecture of severe pulmonary arterial hypertension (PAH) and the genetic contribution to disease susceptibility. Evidence of familial clustering in PAH was first reported by Dresdale in 1954. Familial PAH, observed in approximately 10% of all ascertained cases, has recently been redefined as HPAH to acknowledge the fact that a causal and transmissible genetic defect may underlie disease in as many as a third of all cases. PAH may also be idiopathic (IPAH), or observed in association with exposure to risk factors such as appetite suppressant drugs and a limited series of disorders, including connective tissue disease, congenital heart disease, human immunodeficiency virus infection, and thromboembolic disease.
Keywords:Pulmonary arterial hypertension, Genetics
Subjects:C Biological Sciences > C431 Medical Genetics
Divisions:College of Science > School of Life Sciences
ID Code:7000
Deposited By: Rajiv Machado
Deposited On:01 Dec 2012 23:03
Last Modified:01 Dec 2012 23:03

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