Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

ABSTRACT:

Background

The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease.

Methods

Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we pr

SUBMITTER: Hernandez-Gonzalez I 

PROVIDER: S-EPMC7190146 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature