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No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy.

Abstract：

BACKGROUND:Dilated and hypertrophic cardiomyopathies are primary myocardial diseases that cause considerable morbidity and mortality. Although these cardiomyopathies are clinically heterogeneous, genetic factors play an important role in their etiology and pathogenesis. The defects in the cardiac actin (ACTC) gene can cause both cardiomyopathies. The aim of our study was to screen for variants in the ACTC gene in patients with dilated or hypertrophic cardiomyopathy from Eastern Finland. MATERIALS AND METHODS:Altogether, 32 patients with dilated and 40 patients with hypertrophic cardiomyopathy were included in the study. Commonly approved diagnostic criteria were applied, and secondary cardiomyopathies were carefully excluded. All 6 exons of the ACTC gene were amplified with polymerase chain reaction and screened for variants with single-strand conformation polymorphism analysis. RESULTS AND CONCLUSION:We did not find any new or previously reported variants. Our results indicate that defects in the ACTC gene do not explain dilated cardiomyopathy or hypertrophic cardiomyopathy in subjects from Eastern Finland and confirm earlier results that the ACTC gene does not play an important role in the genetics of dilated or hypertrophic cardiomyopathies.

journal_name

Am Heart J

journal_title

American heart journal

authors

Kärkkäinen S,Peuhkurinen K,Jääskeläinen P,Miettinen R,Kärkkäinen P,Kuusisto J,Laakso M

doi

10.1067/mhj.2002.122514

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

E6

issue

6

eissn

0002-8703

issn

1097-6744

pii

S0002870302000285

journal_volume

143

pub_type

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