Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2

Hereditary hemorrhagic telangiectasia (HTT) is an autosomal dominant disease, most frequently caused by a mutation in either ENG or ACVRL1 , which can be associated with pulmonary arterial hypertension (PAH). In this report, we describe a new unpublished ACVRL1 mutation segregating in three members...

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Main Authors: Alessandra Greco, Sara Plumitallo, Laura Scelsi, Giannantonio Maggi, Matteo Sobrero, Annalisa Turco, Claudia Raineri, Natalia Arseni, Donata Cappelletti, Luigi Oltrona Visconti, Fabio Pagella, Giuseppe Spinozzi, Stefano Ghio, Carla Olivieri, Cesare Danesino
Format: Article
Language:English
Published: SAGE Publishing 2018-06-01
Series:Pulmonary Circulation
Online Access:https://doi.org/10.1177/2045894018782664

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https://doi.org/10.1177/2045894018782664

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