B60-22 Heritable Pulmonary Arterial Hypertension Due to BMPR2 Mutation: A Case Report and the Utility of Genetic Testing
Abstract
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH) caused by either sporadic or familial genetic mutation. The most common gene implicated in HPAH is BMPR2, which is mutated in autosomal dominant manner in up to 80% of patients with HPAH. BMPR2 associated PAH shows a pattern of incomplete penetrance with variable expressivity, making identification of those impacted by disease nuanced. Delayed diagnosis of HPAH likely contributes to poor prognosis despite the development of various interventions for management.
We present a previously healthy male in a family with PAH who presented with a presyncopal event at 3 years old. Workup included an echocardiogram with right ventricular dilation, elevated TR jet, and normal biventricular wall motion. CT chest which showed an enlarged main pulmonary artery with diffusely increased pulmonary vascularity. Cardiac catheterization demonstrated elevated mean pulmonary arterial pressure (53 mmHg), and indexed pulmonary vascular resistance (12.7 WUm2) with a normal pulmonary capillary -wedge pressure (10 mmHg). PAH-specific therapy was initiated, ultimately escalating to sildenafil, tadalafil and treprostinil within one year of diagnosis. At age 13 yrs, he underwent a modified Potts shunt procedure, and started sotatercept at age 15 yrs. Genetic testing discovered a BMPR2 mutation (c.354T>G (p.Cys118Trp)), which was found in several previously known PAH-affected family members as well,…
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