open access

Vol 67, No 5 (2009)
Other
Published online: 2009-05-20
Submitted: 2012-12-28
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Case report
Clinical course of familial primary pulmonary hypertension in a 39-year-old female and her two children

Beata Wożakowska-Kapłon, Alicja Stępień-Wałek, Andrzej Błaszczyk, Adam Torbicki
Kardiol Pol 2009;67(5):521-525.

open access

Vol 67, No 5 (2009)
Other
Published online: 2009-05-20
Submitted: 2012-12-28

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.

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.
Get Citation

Keywords

familial primary pulmonary hypertension; genetic anticipation

About this article
Title

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

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 67, No 5 (2009)

Pages

521-525

Published online

2009-05-20

Bibliographic record

Kardiol Pol 2009;67(5):521-525.

Keywords

familial primary pulmonary hypertension
genetic anticipation

Authors

Beata Wożakowska-Kapłon
Alicja Stępień-Wałek
Andrzej Błaszczyk
Adam Torbicki

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