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