日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Endoglin (ENG) and ACVRL1 are causative genes for hereditary hemorrhagic telangiectasia (HHT); ENG causes HHT type 1 and ALK1 causes HHT type 2. In some cases, HHT is complicated by pulmonary arterial hypertension (PAH). Although there are some reports on PAH in patients with HHT type 2, very few exist for PAH in patients with HHT type 1. Here, we report the case of a 7-year-old girl who was diagnosed of a novel mutation in the ENG gene and PAH on the basis of active diagnostic imaging and gene analysis performed because of a family history of HHT. Upon admission, her status was evaluated as WHO functional class 2. A right-heart catheterization test led to the diagnosis of PAH. The mean pulmonary artery pressure, pulmonary vascular resistance, and pulmonary capillary wedge pressure was 50 mmHg, 11.8 WU/m², and 9 mmHg, respectively. Hereditary PAH is generally associated with poor prognosis. Our patient received upfront combination therapy with bosentan, tadalafil, and beraprost, which improved her status to WHO functional class 1 and her mean pulmonary artery pressure to 35 mmHg. Although upfront combination therapy with oral medication was effective in the short to medium term in our case, long-term observation is also necessary.