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Med Clin (Barc). 2015 Mar 15;144(6):261-4. doi: 10.1016/j.medcli.2014.09.024. Epub 2014 Dec 24.

Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.

Author information

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.

KEYWORDS:

Hereditary hemorrhagic telangiectasia; Hipertensión arterial pulmonar; Hipertensión portal; Mutaciones; Mutations; Portal hypertension; Pulmonary arterial hypertension; Telangiectasia hemorrágica hereditaria

PMID:
25543221
DOI:
10.1016/j.medcli.2014.09.024
[Indexed for MEDLINE]

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