MedGen

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

Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). [from OMIM]