Case report Clinical course of familial primary pulmonary hypertension in a 39-year-old female and her two children

Abstract

Primary pulmonary hypertension (PPH) is diagnosed in case of pulmonary hypertension of unexplained etiology. When PPH occurs in members of a family it sholud be diagnosed as familial PPH. Genetic anticipation has been described in familial PPH. We present a case of two children (4-year-old boy and 8-year-old girl) who died due to complications of familial PPH and their 39-year-old mother who has been treated due to PPH for two years. This case is interesting due to the scarcity of such reports, seriousness of the disease and genetic anticipation of familial PPH.