Pulmonary arterial angioplasty in peripheral pulmonary arterial stenosis in RNF213 vasculopathy: effective but high-risk treatment with reperfusion injury

Abstract

Abstract Background p.Arg4810Lys variant of the ring finger protein 213 (RNF213) vasculopathy is a nonsyndromatic vasculopathy involving multisystemic organs including pulmonary arteries. Peripheral pulmonary arterial stenosis (PPAS) with diffuse stenosis and beaded appearance is a unique feature of this disease and no treatment option has been tried before. Methods We performed BPA for PPAS in RNF213 patients (n=7). Severity of pulmonary hypertension was assessed by echocardiography and right heart catheterization at the baseline. Several clinical and hemodynamic parameters were followed up after each BPA sessions. Results All of the patients had dyspnea on exertion. Right ventricular dysfunction was observed in six patients and NT-proBNP was elevated (949.2±1148.1 pg/mL). Baseline echocardiography showed severe pulmonary hypertension (70.1±19.2 mmHg). Pulmonary arterial ballooning was performed to all patients, but stenting (n=6) and cutting balloon (n=1) was necessary due to elastic recoil. Improvement of clinical and hemodynamic parameters was achieved in six patients after 5.3 sessions of BPA in average. Reperfusion edema was seen in four patients, eventually leading to death in one patient. Conclusions Pulmonary arterial angioplasty, when coupled with stenting, is an effective treatment for PPAS with RNF213 vasculopathy. Although reperfusion injury was common and fatal in a few cases, it is the only modality to improve the patient's symptom and hemodynamics till now. Careful selection of the target population should be preceded to perform the intervention. Funding Acknowledgement Type of funding sources: None.