title: Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.
abstract: Abnormal blood pressure response to exercise is reported to occur in up to a third of hypertrophic cardiomyopathy (HCM) cases and is associated with an increased risk of death, particularly in the young, but it is not known whether the HCM-causing mutation influences blood pressure response to exercise. The purpose of this article is to ascertain whether the blood pressure response to exercise differs among carriers of the R92W mutation in the cardiac troponin T gene (TNNT2), which has been associated with an increased risk of sudden cardiac death in young males; carriers of mutations in the cardiac beta-myosin heavy chain gene (MYH7); and their noncarrier relatives. Thirty R92W(TNNT2) carriers, 51 MYH7 mutation carriers, and 68 of their noncarrier relatives were subjected to bicycle ergonometric exercise testing to assess blood pressure response to, as well as heart rate recovery after, exercise. Additional echocardiographic and demographic details were documented for all participants. R92W(TNNT2) carriers demonstrated significantly more abnormal blood pressure responses to exercise (P = .021; odds ratio 3.03; confidence interval 1.13-8.12) and smaller increases in systolic blood pressure than MYH7 mutation carriers or related noncarrier control individuals. Although abnormal blood pressure response occurred at similar frequencies in males in all groups (23%-26%), the percentage of R92W(TNNT2) females with abnormal blood pressure response was 64%, compared with 25% for MYH7 and 22% for noncarriers. Therefore, these results show that blood pressure response to exercise is influenced by genotype and gender in patients with HCM.
authors.affiliation: Department of Internal Medicine, University of Stellenbosch Health Sciences Faculty, Tygerberg, South Africa.
authors.forename: Marshall
authors.initials: M
authors.lastname: Heradien
authors.forename: Miriam
authors.initials: M
authors.lastname: Revera
authors.forename: Lize
authors.initials: L
authors.lastname: van der Merwe
authors.forename: Althea
authors.initials: A
authors.lastname: Goosen
authors.forename: Valerie A
authors.initials: VA
authors.lastname: Corfield
authors.forename: Paul A
authors.initials: PA
authors.lastname: Brink
authors.forename: Bongani M
authors.initials: BM
authors.lastname: Mayosi
authors.forename: Johanna C
authors.initials: JC
authors.lastname: Moolman-Smook
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001794:Blood Pressure / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D016757:Death, Sudden, Cardiac / Q000209:etiology; D004452:Echocardiography; D005080:Exercise Test; D005260:Female; D006339:Heart Rate; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors; D020107:Troponin T / Q000235:genetics*; D055815:Young Adult
chemical_list: C545568:TNNT2 protein, human; D020107:Troponin T; D024722:Cardiac Myosins