Familial history of hereditary haemorrhagic telangiectasis (HHT) of the 29-yr-old patient (•) with HHT and severe pulmonary arterial hypertension (PAH).

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Familial history of hereditary haemorrhagic telangiectasis (HHT) of the 29-yr-old patient (•) with HHT and severe pulmonary arterial hypertension (PAH). Familial history of hereditary haemorrhagic telangiectasis (HHT) of the 29-yr-old patient (•) with HHT and severe pulmonary arterial hypertension (PAH). Familial history analysis showed three other cases of HHT (▓) and no case of PAH. Genetic analysis of the patient found a missense mutation of the activin receptor-like kinase-1 gene. D. Montani et al. Eur Respir Rev 2009;18:42-46 ©2009 by European Respiratory Society