Korean J Med.  2006 Mar;70(3):313-317.

A case of familial primary pulmonary hypertension

• Park JH
• Kim DS
• Kim DI
• Lee JI
• Jin HY
• Kim SM
• Joo YD

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.

Keyword

Pulmonary hypertension; Primary; Familial

MeSH Terms

Age of Onset
Diagnosis
Dyspnea
Female
Genes, vif
Humans
Hypertension, Pulmonary*
Male
Mothers
Penetrance
Prevalence
Young Adult