title: Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy is a genetic autosomal dominant disease characterized by left ventricular hypertrophy. The molecular diagnosis is important but still expensive. This work aimed to find clinical predictors of a positive genetic test in a Brazilian tertiary centre cohort of index cases with HCM.
  
  
  METHODS
  In the study were included patients with HCM clinical diagnosis. For genotype x phenotype comparison we have evaluated echocardiographic, electrocardiographic, and nuclear magnetic resonance measures. All patients answered a questionnaire about familial history of HCM and/or sudden death. β-myosin heavy chain, myosin binding protein C, and troponin T genes were sequenced for genetic diagnosis.
  
  
  RESULTS
  The variables related to a higher probability of a positive genetic test were familial history of HCM, higher mean heart frequency, presence of NSVT and lower age. Probabilities of having a positive molecular genetic test were calculated from the final multivariate logistic regression model and were used to identify those with a higher probability of a positive molecular diagnosis.
  
  
  CONCLUSIONS
  We developed an easy and fast screening method that takes into account only clinical data that can help to select the patients with a high probability of positive genetic results from molecular sequencing of Brazilian HCM patients.
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil. julia.marsiglia@usp.br.
authors.forename: Julia Daher Carneiro
authors.initials: JD
authors.lastname: Marsiglia
authors.forename: Flávia Laghi
authors.initials: FL
authors.lastname: Credidio
authors.forename: Théo Gremen Mimary
authors.initials: TG
authors.lastname: de Oliveira
authors.forename: Rafael Ferreira
authors.initials: RF
authors.lastname: Reis
authors.forename: Murillo de Oliveira
authors.initials: Mde O
authors.lastname: Antunes
authors.forename: Aloir Queiroz
authors.initials: AQ
authors.lastname: de Araujo
authors.forename: Rodrigo Pinto
authors.initials: RP
authors.lastname: Pedrosa
authors.forename: João Marcos Bemfica
authors.initials: JM
authors.lastname: Barbosa-Ferreira
authors.forename: Charles
authors.initials: C
authors.lastname: Mady
authors.forename: José Eduardo
authors.initials: JE
authors.lastname: Krieger
authors.forename: Edmundo
authors.initials: E
authors.lastname: Arteaga-Fernandez
authors.forename: Alexandre Costa
authors.initials: AC
authors.lastname: Pereira
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006339:Heart Rate; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D011795:Surveys and Questionnaires; D017180:Tachycardia, Ventricular / Q000235:genetics / Q000503:physiopathology; D062606:Tertiary Care Centers; D055815:Young Adult