MedGen

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene. [from MONDO]

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. [from MONDO]

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. [from OMIM]