Open Access Highly Accessed Research article

Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population

Julia Daher Carneiro Marsiglia1*, Flávia Laghi Credidio1, Théo Gremen Mimary de Oliveira1, Rafael Ferreira Reis1, Murillo de Oliveira Antunes2, Aloir Queiroz de Araujo3, Rodrigo Pinto Pedrosa4, João Marcos Bemfica Barbosa-Ferreira5, Charles Mady2, José Eduardo Krieger1, Edmundo Arteaga-Fernandez2 and Alexandre Costa Pereira1

Author Affiliations

1 Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil

2 Clinical Unit of Cardiomyopathies, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil

3 Federal University of Espírito Santo, Vitória, Brazil

4 Chagas Disease and Heart Failure Outpatient Service, PROCAPE-University of Pernambuco/UPE, Recife, Brazil

5 Federal University of Amazonas, Manaus, Brazil

For all author emails, please log on.

BMC Cardiovascular Disorders 2014, 14:36  doi:10.1186/1471-2261-14-36

Published: 13 March 2014



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.


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.


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.


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.

Genetics; MYH7; MYBPC3; TNNT2; Molecular; Screening