Variants in several of the most DEGs in the valve cluster, including COL1A2, ELN and FBLN1 [54–56], have been suggested as being potentially causal for BAV in human genomic studies, whereas MFAP4 and GPC3 have been implicated as causal genes for other CHD [57,58]. The gene discussed is FBLN1; the disease is coronary artery disorder.