Linkage Analysis in a Large Family With Primary Pulmonary Hypertension: Genetic Heterogeneity and a Second Primary Pulmonary Hypertension Locus on 2q31–32

Abstract

Primary pulmonary hypertension (PPH) is an autosomal dominant disorder with an estimated incidence of about one to two cases per million. The disease is characterized by increased resistance of precapillary pulmonary arteries and leads to sustained elevation of pulmonary arterial pressure (mean pressure > 25 mm Hg at rest or > 30 mm Hg during exercise).1 The disease can occur at any stage throughout life from infancy onwards. The mean age at onset is 36 years, and the median length of survival without treatment is < 3 years after diagnosis.