Figure 1.
Pedigree of an extended kindred with heritable pulmonary arterial hypertension (HPAH) due to a BMPR2 mutation with reduced penetrance. This pedigree contains 16 total patients (11 females, 5 males) with HPAH, as well as 10 known heterozygotes (obligate carriers). Solid symbols represent individuals with disease. Circles represent women, squares represent men. Line through symbol represents death. Dot inside symbol represents obligate carrier of the BMPR2 mutation. Numbers below symbols represent age at death or current living age. Numbers inside symbols represent numbers of unaffected siblings of each gender. S inside symbol represents stillbirth. Diamond symbol represents sex unknown.