GJA1 and hypoplastic left heart syndrome 1: Previous bioinformatic analysis has shown that Cx43 has a role in MI.9 Both the H248R and the V236I variants have been potentially associated with oculodentodigital dysplasia (H248R, variant of unknown significance) and hypoplastic left heart syndrome 1, syndactyly type 3, oculodentodigital dysplasia (V236I).