[Clinical course of familial primary pulmonary hypertension in a 39-year-old female and her two children].
Primary pulmonary hypertension (PPH) is diagnosed in case of pulmonary hypertension of unexplained etiology. When PPH occurs in members of a family it should 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.
Wozakowska-Kapłon
Beata
B
I Oddział Kardiologii, Swietokrzyskie Centrum Kardiologii, 25-736 Kielce. bw.kaplon@poczta.onet.pl
Stepień-Wałek
Alicja
A
Błaszczyk
Andrzej
A
Torbicki
Adam
A
D000328:Adult; D020132:Anticipation, Genetic; D002648:Child; D002675:Child, Preschool; D004453:Echoencephalography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D016285:Iloprost / Q000627:therapeutic use; D008297:Male; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use
D010975:Platelet Aggregation Inhibitors; D016285:Iloprost