[SCD-FORUM] 131E Gene screening in HCM Dr. Liu

[SCD Symposium]

Dear Drs Gabriel Pellegrini. La Plata. Argentina:
I think genes screening should be down in patients with Familial Hypertrophic Cardiomyopathy 
It is estimated that over one million of patients suffer from hypertrophic cardiomyopathy (HCM) in China. HCM is the common cause of sudden death in young Chinese, especially in sportsmen.Therefore it should be pay more attention,especially in the familial HCM,because the familial patients are associated with a higher risk of sudden death.In our cohort patients there were 4 /11 families which at least one patient suffered SCD,and only 1/56 of sporadic patient had SCD. The genes’ mutatons screening should be done in familial patients ,and then the same mutation should be screened in the other members of the family in order to find the patients who have not been fonud yet.The genomic typing of familial HCM is more worth than the sporadic patients,because the rate of mutation of familial HCM is higher .In our Cohort patients,there were 5/10 patients identified mutations in myosin heavy chain gene (MYH7), or cardiac myosin-binding protein C (MYBPC3) ,and there was only 1/50 patient identified a mutation in MYH7. 4 other members in these families idenfied the mutations.Therefore,The all members of the HCM family especially for youth should be tested, in order to find new patients and take measures to prevent SCD. 
Wenling Liu. Cardiology Division,Peking University People’Hospital,Beijing 100044, China.,