PRIMARY PULMONARY HYPERTENSION

Abstract

Primary pulmonary hypertension (PPH) is a rare disease characterized by elevated pulmonary artery pressure without a demonstrable cause. Defined as a mean pulmonary artery pressure (PAP) >25mmHg at rest or >30mmHg during exercise1.A subset of the patients with PPH has a familial variant. Familial primary pulmonary hypertension accounted for 6 percent of the 187 cases in the NIH registry4.Some cases may be related to sporadic genetic defects. The most common genetic defect in these cases is related to the BMPR-II gene.The average time from symptom onset to diagnosis has been reported to be approximately 2 years. In about 10 percent of patients, the diagnosis is not established until after three years of symptoms4.ECG usually reveals right atrial enlargement, right axis deviation, right ventricular hypertrophy, and characteristic ST depression and T-wave inversions in the anterior leads.The mortality rate for untreated PPH is approximately 50% at 3 years (this varies with severity at presentation). With epoprostenol therapy, this has increased to higher than 65% at 5 years