Rationale: Analysis of the age of onset in heritable pulmonary arterial hypertension (HPAH)
has led to the hypothesis that genetic anticipation causes younger age of onset and death in …

Background Autosomal dominant inheritance of germline mutations in the bone
morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary …

Mutations in two receptors of the transforming growth factor-beta family have recently been
shown to be present in the majority of cases of inherited (familial) pulmonary arterial …

Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditable (HPAH),
idiopathic (IPAH), or associated with either drug-toxin exposures or other medical …

Rationale: Previous studies have shown that approximately 55% of patients with familial
pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations …

Familial pulmonary arterial hypertension (FPAH) was first described more than 50 years
ago. Before the availability of modern genetic tools, studies of the genealogies …

Pulmonary arterial hypertension (PAH) is a rapidly progressive and fatal disease for which
there is an ever-expanding body of genetic and related pathophysiological information on …

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely)
pathogenic germline genomic variants. In addition to the most prevalent disease gene …

Background Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can
lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened …

Background Previous studies indicate that patients with pulmonary arterial hypertension
(PAH) carrying a mutation in the bone morphogenetic protein receptor type 2 (BMPR2) …