We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTCE99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation.
We conclude that the AHCM-causing ACTCE99K mutation is associated with progressive alterations in biomechanical parameters, with changes smaller at 2 months but larger at 5 months, correlating with the development of AHCM.
Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTCE101K mutation in 247 families with HCM, DCM, or LVNC.