CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.

This is the first HCM family case of CSRP3 (p.Arg122*) variation in Asia. The finding here not only contributes to the genetic diagnosis and counseling of the family, but also provides a new case with detailed phenotypes that may be caused by the CSRP3 variant.