Indeed, the NOTCH2 variant NM_024408.4:c.5177G>A p.(Arg1726His) was previously described in a patient affected by congenital heart disease [37] and both the COL6A1 variants NM_001848.3:c.751G>A p.(Glu251Lys) and NM_001848.3:c.1712A>C p.(Lys571Thr) were associated with neuromuscular disorder [38,39]. This evidence concerns the gene COL6A1 and congenital heart disease.