Seven Additional Patients with Related Pulmonary Arterial Hypertension and Review of the Literature.

Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH.

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Background: Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not well known and genetics could influence management and prognosis.

Objectives: The aim of this work was to identify the molecular fingerprint of PH children in the (REHIPED), and to investigate if genetics could have an impact in clinical reclassification and prognosis.

Expanding the Evidence of a Semi-Dominant Inheritance in Associated with Pulmonary Arterial Hypertension.

Pulmonary arterial hypertension (PAH) sometimes co-exists with hereditary hemorrhagic telangiectasia (HHT). Despite being clinically diagnosable according to Curaçao criteria, HHT can be difficult to diagnose due to its clinically heterogenicity and highly overlapping with PAH. Genetic analysis of the associated genes , , and can help to confirm or discard the presumptive diagnosis.