Guillermo Pousada1, Adolfo Baloira2, Diana Valverde3. 1. Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain; Biomedical Research Institute of Vigo (IBIV), Vigo, Spain. 2. Respiratory Division, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain. 3. Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain; Biomedical Research Institute of Vigo (IBIV), Vigo, Spain. Electronic address: dianaval@uvigo.es.
Abstract
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.
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.