Background: Carriers of variations in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2△) are at high risk for severe pulmonary arterial hypertension (PAH+). Aim:To define the clinical and hemodynamic phenotype of BMPR2△/PAH+ patients. Methods:We performed a systematic review encompassing observational data from January 2000 to July 2019 about BMPR2△ and confirmed PAH diagnosis. According to international clinical guidelines, we aimed to determine the clinical and hemodynamic phenotype of BMPR2△/PAH+. We also explored functional assessment and risk stratification. PROSPERO ID CRD42019124324. Results:We included 54 reports with 6,668 PAH+ patients, 1,220 were BMPR2△/PAH+ with an allele frequency within studies ranging from 8.8% to 24.9%. Female sex was predominant, and age at diagnosis ranged from 32.2 to 46.2 years. We observed the occurrence of BMPR2△ across all PAH clinical classifications, except for schistosomiasis. BMPR2△ correlated with severity signs and symptoms in PAH, poor functional class, severe pulmonary hypertension with elevated pulmonary vascular resistance, and low cardiac index and output. The clinical and hemodynamic missing data ranged between 28%-49% and 50%-65%, respectively. Conclusion:BMPR2△/PAH+ present a phenotype with high mortality risk. The clinical triad of dyspnea, syncope, and hemoptysis could suggest BMPR2△/PAH+. However, poor clinical and hemodynamic characterization hinders translating the benefits of genomic analyses to the clinical setting.