학술논문
Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population
Document Type
Academic Journal
Author
Marsiglia, Julia Daher Carneiro; Credidio, Flávia Laghi; de Oliveira, Thño Gremen Mimary; Reis, Rafael Ferreira; Antunes, Murillo de Oliveira; de Araujo, Aloir Queiroz; Pedrosa, Rodrigo Pinto; Barbosa-Ferreira, João Marcos Bemfica; Mady, Charles; Krieger, Josñ Eduardo; Arteaga-Fernandez, Edmundo; Pereira, Alexandre Costa
Source
BMC Cardiovascular Disorders. March 13, 2014, Vol. 14
Subject
Language
English
ISSN
1471-2261
Abstract
Author(s): Julia Daher Carneiro Marsiglia[sup.1] , Flávia Laghi Credidio[sup.1] , Thño Gremen Mimary de Oliveira[sup.1] , Rafael Ferreira Reis[sup.1] , Murillo de Oliveira Antunes[sup.2] , Aloir Queiroz de Araujo[sup.3] , [...]
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. Keywords: Genetics, MYH7, MYBPC3, TNNT2, Molecular, Screening
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. Keywords: Genetics, MYH7, MYBPC3, TNNT2, Molecular, Screening