Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.

نویسندگان

  • Nelly Frydman
  • Julie Steffann
  • Barbara Girerd
  • René Frydman
  • Arnold Munnich
  • Gérald Simonneau
  • Marc Humbert
چکیده

Pulmonary arterial hypertension (PAH) is a rare and severe condition that may present as familial/heritable disease [1–3]. In recent years, there have been considerable advances in the management of PAH and disease-specific therapies have improved survival rates [3–5]. Nevertheless, PAH remains a devastating disease with progressively debilitating symptoms and high mortality even in the modern management era [6, 7].

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منابع مشابه

Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution.

P ulmonary arterial hypertension (PAH) is a progressive, fatal disease and most PAH patients have a poor prognosis despite standard-of-care therapies. Heritable PAH (HPAH) is usually (.80%) due to germline mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene [1– 4]. Thus, BMPR2 mutations constitute the largest known risk for developing PAH. One of the most perplexing features of ...

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Heritable pulmonary hypertension: from bench to bedside.

Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown ...

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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

BACKGROUND Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened for BMPR2 mutations in a large cohort of PAH-patients and compared clinical features between BMPR2 mutation carriers and non-carriers. METHODS Patients have been assessed by right heart catheterization and genetic testi...

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Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension

BACKGROUND Previous studies indicate that patients with pulmonary arterial hypertension (PAH) carrying a mutation in the bone morphogenetic protein receptor type 2 (BMPR2) gene, develop the disease 10 years earlier than non-carriers, and have a more severe hemodynamic compromise at diagnosis. A recent report has suggested that this may only be the case for females and that patients with missens...

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BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension.

BACKGROUND BMPR2 mutations predispose to idiopathic and heritable pulmonary arterial hypertension (IPAH and HPAH). The influence of BMPR2 mutations on clinical outcome is not concordant in different ethnic groups. Although the BMPR2 mutation spectrum and mutation rate in Chinese PAH patients has been reported previously, the influence of genotype on phenotype and whether this influence is assoc...

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عنوان ژورنال:
  • The European respiratory journal

دوره 39 6  شماره 

صفحات  -

تاریخ انتشار 2012