[Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases].

Background and Objective: Pulmonary arterial hypertension (PAH) is a rare and progressive disease that can be inherited as autosomal dominant form. The BMPR2, ACVRL1 and ENG genes are main genes involved in the pathology. PAH associated to human immunodeficiency virus (HIV) is another rare disease with a low incidence, prevalence and survival. The main objective of this analysis was to study the clinical and molecular characteristics of PAH associated to HIV patients.
Patients: We present 4 cases of HIV patients who developed PAH and have been treated with ambrisentan.
Results: Pathogenic mutations have been identify in analyzed genes in 3 of the four analyzed patients. In addition, these patients present other changes classified as benign after a thorough in silico analysis. We identified some changes in genetic modifiers that predispose to these patients to more severe phenotype.
Conclusions: The clinical analysis can help to define monitoring for these patients and the administration of appropriate treatment. These patients also have shown several pathogenic mutations.
(Copyright © 2016 Elsevier España, S.L.U. All rights reserved.)