Genetic Counseling and Testing in Pulmonary Arterial Hypertension

Abstract

A subgroup of patients diagnosed with pulmonary arterial hypertension (PAH) carry transmissible pathogenic gene mutations. For many of these patients, the heritable nature of their disease can only be uncovered by genetic testing. Because identification of PAH patients who carry pathogenic gene mutations has important implications for other family members, genetic counseling and testing should be offered to patients diagnosed with idiopathic or familial PAH. This review describes the current state of genetic counseling and testing for patients diagnosed with PAH.

Growing up with Idiopathic Pulmonary Arterial Hypertension: An Arduous Journey

“…Two genetic testing options are available: gene-panel testing and whole-genome sequencing. Generally, it is recommended to start with gene-panel testing, which is faster and less expensive, before moving on to genome sequencing if a genetic origin of the disease is strongly suspected [ 15 , 16 ].…”

“…Two genetic testing options are available: gene-panel testing and whole-genome sequencing. Generally, it is recommended to start with gene-panel testing, which is faster and less expensive, before moving on to genome sequencing if a genetic origin of the disease is strongly suspected [15,16]. A final important point is the determination of the blood levels of BNP and its precursor NT pro-BNP, which is synthesized by cardiomyocytes in response to stretch.…”