Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population
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Citações na Scopus
7
Tipo de produção
article
Data de publicação
2014
Título da Revista
ISSN da Revista
Título do Volume
Editora
BIOMED CENTRAL LTD
Autores
CREDIDIO, Flavia Laghi
REIS, Rafael Ferreira
ARAUJO, Aloir Queiroz de
PEDROSA, Rodrigo Pinto
BARBOSA-FERREIRA, Joao Marcos Bemfica
Citação
BMC CARDIOVASCULAR DISORDERS, v.14, article ID 36, 7p, 2014
Resumo
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. beta 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.
Palavras-chave
Genetics, MYH7, MYBPC3, TNNT2, Molecular, Screening
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