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Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy
被引:41
作者:
Carneiro Marsiglia, Julia Daher
[1
]
Credidio, Flavia Laghi
[1
]
Mimary de Oliveira, Theo Gremen
[1
]
Reis, Rafael Ferreira
[1
]
Antunes, Murillo de Oliveira
[2
]
de Araujo, Aloir Queiroz
[3
]
Pedrosa, Rodrigo Pinto
[4
]
Bemfica Barbosa-Ferreira, Joao Marcos
[5
]
Mady, Charles
[2
]
Krieger, Jose Eduardo
[1
]
Arteaga-Fernandez, Edmundo
[2
]
Pereira, Alexandre da Costa
[1
]
机构:
[1] Univ Sao Paulo, Lab Genet & Mol Cardiol, Heart Inst InCor, Sao Paulo, Brazil
[2] Univ Sao Paulo, Clin Unit Cardiomyopathies, Heart Inst InCor, Sao Paulo, Brazil
[3] Federal Univ Espirito Santo, Vitoria, ES, Brazil
[4] Pronto Socorro Cardiol Pernambuco PROCAPE, Sleep & Heart Lab, Recife, PE, Brazil
[5] Federal Univ Amazonas, Manaus, Amazonas, Brazil
关键词:
BINDING-PROTEIN-C;
MYOSIN HEAVY-CHAIN;
GENOTYPE CLINICALLY USEFUL;
PREDICTING-PROGNOSIS;
MUTATIONS;
IDENTIFICATION;
POPULATION;
PREVALENCE;
COMPOUND;
DISEASE;
D O I:
10.1016/j.ahj.2013.07.029
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Background Hypertrophic cardiomyopathy (HC) is the most prevalent genetic cardiac disease caused by a mutation in sarcomeres, Z-disks, or calcium-handling genes and is characterized by unexplained left ventricular hypertrophy. The aim of this study was to determine the genetic profile of Brazilian patients with HC and correlate the genotype with the phenotype. Methods We included 268 index patients from Sao Paulo city and 3 other cities in Brazil and extracted their DNA from whole blood. We amplified the coding sequencing of MYH7, MYBPC3, and TNNT2 genes and sequenced them with an automatic sequencer. Results We identified causal mutations in 131 patients (48.8%). Seventy-eight (59.5%) were in the MYH7 gene, 50 (38.2%) in the MYBPC3 gene, and 3 (2.3%) in the TNNT2 gene. We identified 69 mutations, 24 not previously described. Patients with an identified mutation were younger at diagnosis and at current age, had a higher mean heart rate and higher nonsustained ventricular tachycardia frequency compared with those without a mutation. Patients with MYH7 gene mutations had a larger left atrium and higher frequency of atrial fibrillation than did patients with MYBPC3 gene mutations. Conclusion The presence of a mutation in one of the genes suggests a worse prognosis. Mutations in the MYH7 gene, rather than in the MYBPC3 gene, were also related to a worse prognosis. This is the first work characterizing HC molecular epidemiology in the Brazilian population for the 3 most important genes.
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页码:775 / 782
页数:8
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