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

BMC Cardiovascular Disorders

Alexandre Costa Pereira⁵  Edmundo Arteaga-Fernandez³  José Eduardo Krieger⁵  Charles Mady³  João Marcos Bemfica Barbosa-Ferreira¹  Rodrigo Pinto Pedrosa²  Aloir Queiroz de Araujo⁴  Murillo de Oliveira Antunes³  Rafael Ferreira Reis⁵  Théo Gremen Mimary de Oliveira⁵  Flávia Laghi Credidio⁵  Julia Daher Carneiro Marsiglia⁵ 

[1] Federal University of Amazonas, Manaus, Brazil;Chagas Disease and Heart Failure Outpatient Service, PROCAPE-University of Pernambuco/UPE, Recife, Brazil;Clinical Unit of Cardiomyopathies, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil;Federal University of Espírito Santo, Vitória, Brazil;Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil

关键词: Screening;    Molecular;    TNNT2;    MYBPC3;    MYH7;    Genetics;   

Others  :  855268
DOI  :  10.1186/1471-2261-14-36

 received in 2013-11-29, accepted in 2014-03-10,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Marsiglia et al.; licensee BioMed Central Ltd.

【 图 表 】

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