Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

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• who: Trembath Richard C. et al. from the These lead to recurrent epistaxis and gastrointestinal blood loss as well as arteriovenous malformations, particularly in the pulmonary, hepatic, and cerebral circulations [15]Pulmonary arteriovenous malformations create clinically significant right-to-left shunts, causing hypoxemia, paradoxical embolism, stroke, and cerebral abscesses [16]. Mutations in two genes encoding additional TGF-b receptors, namely, endoglin and activin-receptor-like kinase , (ALK1), which are located on chromosomes , and, respectively, underlie hereditary hemorrhagic telangiectasia (Fig., ).12, , We investigated the genetic basis of pulmonary hypertension in subjects with hereditary hemorrhagic telangiectasia. We identified kindreds . . .
  

   

  

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