Analysis Of Clinical Features And Whole Exome Sequencing In Patients With Hypertrophic Cardiomyopathy

Objective: Hypertrophic cardiomyopathy is a common hereditary cardiomyopathy in clinical practice,with a wide range of clinical and phenotypic heterogeneity,the clinical phenotype of hypertrophic heart disease caused by different genes is significantly different,and the clinical prognosis of hypertrophic heart disease caused by the same gene variation is still significantly different,which makes it difficult to establish the relationship between genotype and phenotype,which limits the application of test results to clinical decision-making.This study summarizes the clinical characteristics of patients with hypertrophic cardiomyopathy,detects and analyzes the association between genotype and clinical phenotype in family prospects,and screens potential pathogenic genes in order to more comprehensively evaluate the correlation between genotype and phenotype of hypertrophic heart disease.Methods:Select 37 probands of familial hypertrophic cardiomyopathy from the outpatient and inpatient departments of Sichuan Provincial People’s Hospital,collect the relevant clinical indicators of the patients,analyze the data with SPSS 26.0 software,and detect the whole exon gene of cardiomyopathy in 32 probands;Determine the follow-up of patients and family members,collect and update the clinical data during the follow-up of patients,and finally evaluate the correlation between genotype and phenotype based on the results of gene detection and clinical phenotype.Results:Among 37 patients with familial hypertrophic cardiomyopathy,21(56.7%)were male and 16(43.3%)were female,with an average age of(54.59± 16.17)years.Among them,15 patients(40.5%)were hypertrophic obstructive cardiomyopathy(HOCM)and 5 patients(13.5%)were apical HCM(AHCM).During the follow-up period,4(10.8%)patients with hypertrophic heart disease died,including 2 patients with cardiovascular death/heart transplantation and 1patients with SCD.The results of gene detection in 32 probands of familial hypertrophic heart disease showed that 14 patients carried pathogenic or suspected pathogenic gene mutations,with a positive rate of 43.8%;19 patients were detected to carry gene mutations of unknown significance;Among them,5patients with 2 or more gene mutations were found.A total of 7 pathogenic or suspected pathogenic sites were detected,and a total of 14 mutation sites were found on them,of which 6 were MYBPC3 and 3 were MYH7.A total of 10 clearly pathogenic mutation sites were detected,of which CALR3-p.Tyr 95 *and ACTN2-p.asp 275 fs were two new sites.Conclusion:Compared with non-obstructive hypertrophic heart disease,patients with obstructive hypertrophic heart disease have thicker ventricular septum,smaller left ventricle,high incidence of adverse outcome events and relatively poor prognosis;Compared with patients with non-apical hypertrophic heart disease,patients with apical hypertrophic heart disease are more common in men,with less outflow tract obstruction and smaller left ventricle,and are more inclined to use ACEI treatment.Compared with patients with hypertrophic heart disease with MYBPC3 gene mutation,patients with hypertrophic heart disease with MYH7 gene have more males and larger left ventricle.It verifies that the previously reported pathogenic sites can cause fatty heart disease and find new mutation sites,expanding the gene database of fatty heart disease.Patients with multiple gene mutations have severe clinical phenotype and poor prognosis,and need strict and regular follow-up.