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Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is an important component of diagnosis and understanding burden of disease. Recently, consensus guidelines are published for genetic screening in PAH. These guidelines include recommendations for screening at diagnosis, noting individuals with presumed PAH due to familial, or idiopathic etiologies. Cascade genetic testing is specifically recommended as a testing paradigm to screen relatives for detection of mutation carriers, who may be asymptomatic. Without targeted genetic testing, familial mutation carriers may only come to attention when pulmonary vascular disease burden is high enough to cause symptoms, suggesting more advanced disease. Here, we present our collective experience with HPAH in five distinct families, specifically to report on the clinical courses of patients who were diagnosed with genetic mutation at diagnosis versus those who were offered genetic screening. In three families, asymptomatic mutation carriers were identified and monitored for clinical worsening. In two families, screening was not done and affected family members presented with advanced disease., Competing Interests: Sandeep Sahay: Speaker and advisor for Actelion, Bayer and United Therapeutics. Advisor for Boehringer Ingelheim, Liquidia Technologies, Gossamer Bio and Altavant Sciences. Clinical trial endpoint adjudication committee member for a GSK sponsored RCT, Research grant from ACCP CHEST Foundation, Research grant from United Therapeutics, Consultant for Acceleron Pharmaceuticals. The remaining authors declare no conflict of interest., (© 2023 The Authors. Pulmonary Circulation published by John Wiley & Sons Ltd on behalf of Pulmonary Vascular Research Institute.)

Competing Interests: Akhilesh A. Padhye reports no conflict of interests. Sandeep Sahay is a speaker and consultant for Actelion, Bayer, and United Therapeutics; advisor for Boehringer Ingelheim, Liquidia Technologies, Gossamer Bio, and Altavant Sciences; Clinical trial end point adjudication committee member for a GSK sponsored RCT, Research grant from ACCP CHEST Foundation.