Background and objective: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in less than 1% of cases. Liver cirrhosis with portal hypertension is also associated with the presence of PAHs in 1-2% of cases.
Patients: We present here a patient with HHT who developed PAH shortly after showing portal hypertension.
Results: Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. We analyzed these genes, detecting mutations in BMPR2 gene (c.1021G>A (V341L), c.327G>A (p.Q109Q)), ACVRL1 (c.313+20C>A, c.1502+7A>G) and ENG (c.498G>A (Q166Q)). The patient also had 3 polymorphisms in the TRPC6 gene (c.1-361A>T, c.1-254C>G, c.1-218C>T).
Conclusions: The study of these genes will help us to identify and track individuals susceptible for developing PAH associated with other diseases.
Keywords: Hereditary hemorrhagic telangiectasia; Hipertensión arterial pulmonar; Hipertensión portal; Mutaciones; Mutations; Portal hypertension; Pulmonary arterial hypertension; Telangiectasia hemorrágica hereditaria.
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