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Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Abstract：

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 São 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.

journal_name

Am Heart J

journal_title

American heart journal

authors

Marsiglia JD,Credidio FL,de Oliveira TG,Reis RF,Antunes Mde O,de Araujo AQ,Pedrosa RP,Barbosa-Ferreira JM,Mady C,Krieger JE,Arteaga-Fernandez E,Pereira Ada C

doi

10.1016/j.ahj.2013.07.029

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

775-82

issue

4

eissn

0002-8703

issn

1097-6744

pii

S0002-8703(13)00515-2

journal_volume

166

pub_type

杂志文章,多中心研究

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