Familial Primary Pulmonary Hypertension

Familial Primary Pulmonary Hypertension, now more commonly referred to as heritable pulmonary arterial hypertension, is a rare clinical disorder involving abnormally high blood pressure within the pulmonary arteries. This condition occurs when the small blood vessels in the lungs become narrowed or blocked, making it harder for blood to flow through them. This increased resistance forces the right side of the heart to work harder to pump blood, which can eventually lead to heart failure.

The most common genetic cause is a mutation in the BMPR2 gene, which is inherited in an autosomal dominant pattern with incomplete penetrance. This means that not everyone who inherits the mutation will develop the disease. Symptoms often include shortness of breath, fatigue, dizziness, and chest pain.