Genetics of pulmonary hypertension

Hypertension means high blood pressure. High blood pressure is when pressure in your arteries stays higher than it should. Arteries carry oxygen-rich blood to the body. Pulmonary arterial hypertension (PAH) is a special type of high blood pressure. This type affects the arteries in your lungs (pulmonary arteries) as well as the right side of your heart. The right side of your heart pumps blood to the lungs to get oxygen. The pulmonary veins then bring the oxygen rich blood back to the left side of the heart. The left side then pumps oxygen-rich blood to the body. In PAH, the high pressure (hypertension) in the pulmonary arteries are difficult for the right heart to push against. Over time, this makes the heart muscles weak to the point they begin to fail to work well. Lung and heart diseases, AIDS, and other disease can cause PAH. We call this associated PAH, or APAH, because it links with a disease. But, sometimes we don’t know what causes PAH. Idiopathic means “of unknown cause.” So, idiopathic PAH, or IPAH, means pulmonary arterial hypertension of unknown cause. Scientists think there might be a link between iron metabolism and IPAH. They found certain gene changes linked with IPAH. Some gene changes may overlap with those linked with iron metabolism diseases. The Vanderbilt scientists will use BioVU to check if any gene changes overlap. Then they will go back and check for the same gene changes in the original group. Finally, they will check if these gene changes are also linked to APAH. This study may help us understand more about pulmonary hypertension. It may also help doctors understand who might be at risk for PAH.