A case of familial primary pulmonary hypertension.
- Author:
Jeong Ha PARK
1
;
Dong Soo KIM
;
Doo Il KIM
;
Jae Ik LEE
;
Han Young JIN
;
Seong Man KIM
;
Young Don JOO
Author Information
1. Department of Internal Medicine, Inje University College of Medicine, Paik Hospital, Busan, Korea. dongskim@ijnc.inje.ac.kr
- Publication Type:Case Report
- Keywords:
Pulmonary hypertension;
Primary;
Familial
- MeSH:
Age of Onset;
Diagnosis;
Dyspnea;
Female;
Genes, vif;
Humans;
Hypertension, Pulmonary*;
Male;
Mothers;
Penetrance;
Prevalence;
Young Adult
- From:Korean Journal of Medicine
2006;70(3):313-317
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Primary Pulmonary Hypertension (PPH) predominantly affects women frequently in the prime of life and usually leads to death from right ventricular failure within a few years after diagnosis. The prevalence and etiology of familial PPH are uncertain. The age of onset is variable and penetrance is incomplete. Although its occurrence in families was reported within a few years after the original clinical report, PPH was formely believed rarely to have a gene basis. Recent progress has not only clarified a basic molecular mechanism for PPH in familise, but also identified mutations of the same gene in many sporadic PPH patients, suggestion that its basis is commonly genetic. We report a case of familial PPH in a 20-year-old male with exetional dyspnea, who has a family history of PPH in his mother. We report this case with a brief review of recent literatures.
