James Loyd
Faculty Member
Last active: 2/12/2015

Heritable forms of pulmonary arterial hypertension.

Austin ED, Loyd JE
Semin Respir Crit Care Med. 2013 34 (5): 568-80

PMID: 24037626 · PMCID: PMC4102304 · DOI:10.1055/s-0033-1355443

Tremendous progress has been made in understanding the genetics of heritable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 (BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). Recent advancements in gene sequencing methods have facilitated the discovery of additional genes with mutations among those with and without familial PAH (CAV1, KCNK3). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, and female predominance. These characteristics suggest that genetic and nongenetic factors modify disease expression, highlighting areas of active investigation. The reduced penetrance makes genetic counseling complex, as the majority of carriers of PAH-related mutations will never be diagnosed with the disease. This issue is increasingly important, as clinical testing for BMPR2 and other mutations is now available for the evaluation of patients and their at-risk kin. The possibilities to avoid mutation transmission, such as the rapidly advancing field of preimplantation genetic testing, highlight the need for all clinicians to understand the genetic features of PAH risk.

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MeSH Terms (22)

Activin Receptors, Type II Antigens, CD Bone Morphogenetic Protein Receptors, Type II Caveolin 1 Endoglin Familial Primary Pulmonary Hypertension Female Gene-Environment Interaction Genetic Counseling Genetic Testing Germ-Line Mutation Humans Hypertension, Pulmonary Male Nerve Tissue Proteins Penetrance Potassium Channels, Tandem Pore Domain Pregnancy Preimplantation Diagnosis Receptors, Cell Surface Sex Distribution TGF-beta Superfamily Proteins

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