Clinical Testing Of Known Pathogenic Genes And Pharmacogenomics In Patients With Hypertrophic Cardiomyopathy

Objective: Hypertrophic cardiomyopathy(HCM)is a kind of inherited cardiomyopathy with ventricular septal hypertrophy.It has familial aggregation and main etiology is the mutations in the gene encoding sarcomere protein.The most common mutation genes are MYBPC3 and MYH7.At present,the main treatment is drug therapy,and the first choice is ?-blocker.In this paper,167 HCM cases were collected,the clinical characteristics of the patients were analyzed,and the clinical detection of known pathogenic genes and drug genes was carried out,in order to diagnose at the gene level,individualized treatment of patients,and reduce the incidence of adverse reactions.Methods: The clinical data of 167 HCM patients were collected from January 2011 to December 2019 in the cardiovascular department of Sichuan people's Hospital,and analyzed with SPSS17.0 statistical software;5ml of venous blood was collected from 89 patients with hypertrophic heart disease,and genomic DNA was extracted by phenol extraction method,and then panel detection was carried out.We collected 5 ml venous blood from 25 patients and tested 22 genes of 39 drugs.Results: The clinical data of 167 HCM patients showed that the average age of the patients was(51.14 ± 15.0),56 patients with apical hypertrophy(33.5%)and 47 patients with obstructive HCM(28.1%);the panel test of 89 patients with hypertrophic heart disease showed that 29 patients(32.6%)had the mutation of pathogenic gene,among which 8 patients(27.6%)had the mutation of MYBPC3 and 9 cases(31.0%)had MYH7 gene mutation,both accounting for 58.6%.58 cases(65.2%)carried gene mutations of unknown significance,2 cases(2.2%)did not detect the mutated genes;The results of drug gene detection in 85 patients showed that CYP2D6 and ADRB1 were related to?-blocker.CYP2D6 detected five genotypes,namely *14/*14,*1/*1,*10/*10,*10/*1and *14/*10.The corresponding phenotypes were PM(30.6%),EM(9.4%),IM(25.9%),EM(32.9%)and IM(1.2%).Conclusion: In this paper,compared with men and women,pacemaker implantation is less,but the proportion of patients with apical HCM is larger;the mutation rate of MYBPC3 and MYH7 is the highest,accounting for 58.6%;among them,the mutation rate of p.Thr449 Asn site of MYH7 is the highest,accounting for 10.3%;Indrug gene detection,PTGS1,NPPA,ACE and APOA1 were not detected mutations,while VKORC1,LTC4 S,ABCB1,CYP11B2,ADRB1,LPL,ALDH2,ADD1 and AGT were homozygous mutations.About 1/3 of HCM patients with CYP2D6 phenotype are PM,When taking ?-blocker,the dosage should be reduced to reduce the occurrence of adverse reactions.