Pulmonary Hypertension (PAH) is a rare, progressive life-threatening condition. The pulmonary arteries deliver blood from the heart to the lungs. The blood then gains oxygen in the lungs to better function in the rest of the body. In PAH the small arteries become constricted, or narrow. Diagnosis of PAH is relatively straightforward, but finding what causes it in the first place is more challenging. Treatment is then quite specific. It aims to slow the disease, as there is no cure and management can be difficult.
There is a specific gene mutation in some families, which can cause pulmonary arterial hypertension. This is classified in Group 1 of pulmonary hypertension. It is also known as heritable pulmonary arterial hypertension (HPAH). This is a progressive disease and potentially fatal. This kind of mutation within predisposed genes is usually found as elevated pulmonary arterial resistance, which means it doesn't let blood be pushed through the circulatory system. This lack of blood flow leads to failure of the right side of the heart chambers.
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