Mutations of related genes, for example, some sarcomeric protein genes MYH7, MYBPC3, JUP and pathogenic genes of Barth syndrome TAZ could lead to NVM [5, 6]. Activin receptor-like kinase 1 gene (ACVRL1) is the pathogenic gene of hereditary hemorrhagic telangiectasia type 2 (HHT2), which leads to arteriovenous fistula or proliferation of vascular wall, occlusion and reconstruction of pulmonary arterioles, and could eventually cause pulmonary hypertension [7–10]. The gene discussed is ACVRL1; the disease is pulmonary arterial hypertension.