Several studies also found that heterozygous mutations and deletions in GJA5 have been identified in patients with structural cardiac defects (especially aortic arch anomalies and tetralogy of Fallot) (Guida et al., 2013; Soemedi et al., 2012; Christiansen et al., 2004) and essential hypertension (Wang et al., 2023). The gene discussed is GJA5; the disease is hypertensive disorder.