Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

This figure represents the pedigree tree of the German family analysed in this study. The index patient of the family is marked by an arrow. All family members with manifest PAH are shown in black. Healthy family members have open symbols and those who were heterozygous for the identified mutation are marked with “Alu”. Those family members with hypertensive response due to exercise have half-filled symbols. Family members with unknown hemodynamic status have open symbols with a question mark inside. A question mark below the pedigree ID indicates that the genetic status in this family member is unknown. An open blue square marks the family members which presented at the beginning of the follow-up with hypertensive response due to exercise and changed their status to manifest PAH (II:12 and III:28). All family members who participated in the clinical and/or genetic analysis are marked by a star. The numbering of the individuals in the pedigree corresponds to the IDs of the family members in table 1.