Clinical And Related Gene Analysis Of Hypertrophic Cardiomyopathy

Abstract 1 Analysis for the complication of Alcohol septal ablation for the treatment of hypertrophic obstructive cardiomyopathy[Objective]The aim of this study was to evaluate the shorterm results of percutaneous transluminal septal myocardial ablation(PTSMA)in a 357 patients' cohort.[Methods]We describe our first experience in 357 patients who were treated in our institution during the year 2000-08 to 2017-04.All patients had a clinical follow-up during the hospitalization.[Results]PTSMA was intended in 357 patients with hypertrophic obstructive cardiomyopathy HOCM,with 352 procedures completed by injection of 2.43±1.16ml of alcohol.The procedure was initially successful in 320(90.91%)patients.Four patients died during the hospitalization due to the procedure.In the 320 patients the procedure was successful with an acute decrease of the mean outflow tract gradient from 97.86±36.89 mmHg to 25.48±18.07 mmHg.One patient needed a permanent pacemaker for persisting total heart block.Five patients were detected with deep vein thrombosis of lower limb.[Conclusions]Our preliminary results demonstrate that PTSMA is an effective and safe treatment for symptomatic patients with HOCM.Precise operation is required during the procedure and close mornitoring is required after operation.Abstract 2 Study of the relationship between phenotype and different mutation of 1382 amino acid in the cardiac beta-myosin heavy chain gene in Chinese patients with hypertrophic cardiomyopathy[Objective]To observe the relationship between phenotype and different mutation of 1382 amino acid in the cardiac beta-myosin heavy chain gene in Chinese patients with hypertrophic cardiomyopathy(HCM).[Methods]Five hundred and twenty-nine unrelated patients with HCM and 307 controls were enrolled in this study.The full encoding exons and flanking sequences of the cardiac beta-myosin heavy chain gene(MYH7)were amplified with PCR and the products were sequenced.[Results]A missense mutation c.4145G>A was identified in exon 29 of MYH7 gene in a HCM patient,which resulted a Arginine(R)to Glutamine(Q)exchange at amino acid residue 1382(R1382Q).Another missense mutation c.4144C>T was identified in exon 29 of MYH7 gene in another HCM patient,which resulted a Arginine(R)to Tryptophane(W)exchange at amino acid residue 1382(R1382W).The clinical phenotypes of the two patients were the same(Hypertrophic obstructive cardiomyopathy).The 370 controls were normal in the genetic test.Both two patients were undered percutaneous transluminal septal myocardial ablation,and had a good prognosis.[Conclusions]Arg1382 Gln/Trp mutations had the same phenotype(Hypertrophic obstructive cardiomyopathy),underwent percutaneous transluminal septal myocardial ablation therapy had a good prognosis.The Arg1382Gln mutation in MYH7 gene was a novel mutation in Chinese patients with HCM.Abstract 3 A Mutation Tyr842Ter in the Cardiac Myosin Binding Protein C Gene in Chinese Patient with Hypertrophic Cardiomyopathy and Clinical Follow-up Study[Objective]To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy(HCM).[Methods]Five hundred and twenty-nine unrelated patients with HCM and 307 controls were enrolled in this study.The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene(MYBPC3)were amplified with PCR and the products were sequenced.[Results]A nonsense mutation c.2526C>G was identified in exon 25 of MYBPC3 gene in three HCM patients,which resulted a Tyrosine(Y)to Nonsense(Stop)exchange at amino acid residue 842(Tyr842Ter).The clinical phenotypes of the three patients were the same(non-obstructive HCM with atrial fibrillation).The 307 controls were normal in the genetic test.[Conclusions]The Tyr842Ter mutation in MYBPC3 gene was a benign mutation in Chinese patients with HCM,and had a good prognosis.Abstract 4 Impact of Basic Thyroid Hormone Level on Prognosis of Patients With Apical Hypertrophic Cardiomyopathy[Objective]To analyze the basic thyroid hormone level on long term prognosis in patients with Apical Hypertrophic Cardiomyopathy(AHCM).[Methods]A total of 142 consecutive patients who diagnosed with AHCM by echocardiography and/or cardiac magnetic resonance(CMR)from July 2008 to August 2012 were retrospectively studied.According to serum levels of thyroid stimulating hormone(TSH),the patients were divided into 3 groups:TSH<0.55 uIU/mL group?TSH(0.55-4.78)uIU/mL group?TSH>4.78 uIU/mL group.Cox regression analysis was used to the predictors of the cardiac events.[Results]The average age of patients was at(58.23±10.95)years including 112(78.87%)male and 30(21.13%)female.The average follow-up period was(4.65±1.09)years with 97.18%follow-up rate.There were 9.15%of patients with hypothyroidism,and 4(2.82%)patients with low T3 syndrome,8(5.63%)with subclinical hypothyroidism and 1(0.7%)with clinical hypothyroidism.For long term prognosis,no matter uni-/multi-aviate regression analysis or Kaplan-Meier surviving curve all suggested that TSH>4.78 uIU/mL was the independent risk factor influencing the prognosis of patients with AHCM.Upon TSH increasing,the patients would have worse prognosis accordingly.On the basis of 138 patients at follow up,the independent prognostic factors of AHCM include TSH 13.522(95%CI:2.798-65.337,P<0.005),NT-proBNP 12.695(95%CI:1.084-14.869,P=0.043)and HsCRP 1.169(95%CI:1.001-1.366,P=0.048).[Conclusion]Serum level of TSH>4.78 uIU/mL was the independent risk factor in patients with AHCM.