So far, a limited number of clinical reports have been published, but Ma et al. [22] reported 14 patients with SLC2A3 mutation, of which 6 presented with secundum ASD, right heart enlargement with pulmonary hypertension, TC and multi-hole PVSD, and one patient died due to heart disease (Table 2, Supplementary Tables S2 and S3). The gene discussed is SLC2A3; the disease is heart disorder.