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

BMC Cardiovascular Disorders

Research Article

Rodrigo Pinto Pedrosa¹  Murillo de Oliveira Antunes²  Charles Mady²  Edmundo Arteaga-Fernandez²  João Marcos Bemfica Barbosa-Ferreira³  Aloir Queiroz de Araujo⁴  Flávia Laghi Credidio⁵  Rafael Ferreira Reis⁵  Julia Daher Carneiro Marsiglia⁵  Théo Gremen Mimary de Oliveira⁵  Alexandre Costa Pereira⁵  José Eduardo Krieger⁵ 

[1] 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 Amazonas, Manaus, 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: Genetics;    MYH7;    MYBPC3;    TNNT2;    Molecular;    Screening;   

DOI  :  10.1186/1471-2261-14-36

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

来源: Springer

【 摘 要 】

BackgroundHypertrophic 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.MethodsIn 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.ResultsThe 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.ConclusionsWe 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】

CC BY   
© Marsiglia et al.; licensee BioMed Central Ltd. 2014