title: [Relationship between electrocardiographic and genetic mutation (MYH7-H1717Q, MYLK2-K324E and KCNQ1-R190W) phenotype in patients with hypertrophic cardiomyopathy].
abstract: OBJECTIVE
  To explore the relationship between electrocardiographic (ECG) and genetic mutations of patients with hypertrophic cardiomyopathy (HCM), and early ECG changes in HCM patients.
  
  
  METHODS
  Clinical, 12-lead ECG and echocardiographic examination as well as genetic examinations were made in a three-generation Chinses HCM pedigree with 8 family members (4 males). The clinical characterization and ECG parameters were analyzed and their relationship with genotypes in the family was explored.
  
  
  RESULTS
  Four missense mutations (MYH7-H1717Q, MYLK2-K324E, KCNQ1-R190W, TMEM70-I147T) were detected in this pedigree. The proband carried all 4 mutations and 5 members carried 2 mutations. Corrected QTc interval of KCNQ1-H1717Q carriers was significantly prolonged and was consistent with the ECG characterization of long QT syndrome. MYLK2-K324E and KCNQ1-R190W carriers presented with Q wave and(or) depressed ST segment, as well as flatted or reversed T waves in leads from anterolateral and inferior ventricular walls. ECG results showed ST segment depression, flat and inverted T wave in the gene mutation carriers with normal echocardiographic examination results. ECG and echocardiographic results were normal in TMEM70-I147T mutation carrier.
  
  
  CONCLUSIONS
  The combined mutations of the genes associated with cardiac ion channels and HCM are linked with the ECG phenotype changes in this HCM pedigree. The variations in ECG parameters due to the genetic mutation appear earlier than the echocardiography and clinical manifestations. Variation in ECG may become one of the indexes for early diagnostic screening and disease progression of the HCM gene mutation carriers.
authors.affiliation: Department of Electrocardiogram, Xijing Hospital, Xi'an 710032, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Shao
authors.forename: Yanmin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Liwen
authors.initials: L
authors.lastname: Liu
authors.forename: Zhiling
authors.initials: Z
authors.lastname: Ma
authors.forename: Lei
authors.initials: L
authors.lastname: Zuo
authors.forename: Chuang
authors.initials: C
authors.lastname: Ye
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Wei
authors.forename: Chao
authors.initials: C
authors.lastname: Sun
authors.forename: Ling
authors.initials: L
authors.lastname: Tao
mesh_terms: D053840:Brugada Syndrome; D000075224:Cardiac Conduction System Disease; D024722:Cardiac Myosins; D002312:Cardiomyopathy, Hypertrophic; D004452:Echocardiography; D004562:Electrocardiography; D005091:Exons; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome; D009154:Mutation; D020125:Mutation, Missense; D018995:Myosin Heavy Chains; D009219:Myosin-Light-Chain Kinase; D010375:Pedigree; D010641:Phenotype
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; C501641:MYH7 protein, human; D009219:Myosin-Light-Chain Kinase; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains