Recent studies have further highlighted the essential roles of obscurin in cardiac pathophysiology as missense and frameshift mutations in the OBSCN gene were shown to co-segregate with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC) (Grogan and Kontrogianni-Konstantopoulos, 2018). Here, OBSCN is linked to dilated cardiomyopathy.